Color Genes WEB site European Society for Pigment Cell ResearchInternational Federation of Pigment Cell Societies (IFPCS)


The following table contains information on color genes described in mice and their human and zebrafish homologues. We have included both genes that have been cloned and those that have only been mapped. Some loci, such as Bcl2 and Brca1, are not obvious candidates for color loci, but mutations in these genes (sometimes as seen in a knockout) do result in a dilution of coat color, and thus have been included in this table. Currently there are 378 loci described in this table (171 cloned genes and 207 uncloned genes). We are actively updating this table with additional loci involved in pigmentation, therefore the number of loci shown will be increasing in the near future. We suggest you to visit this WEB page regularly to obtain the most updated information.

There are two sets of loci:

Summary of cloned color genes

Summary of non-cloned color genes

Last modified on October 2, 2011


We hope that this table is of use to you. If you have any corrections or additions, please let us know at micemut@espcr.org. Though we have tried to make this information as accurate as possible, the ESPCR and the IFPCS make no guarantee as to the accuracy of this information.

Many of these color mutations can be obtained from the The Jackson Laboratory or the Mutant Mouse Regional Resource Centers or located in one of the several existing mouse repositories world wide, searchable through the International Mouse Strain Resource.

Appearance and coat color descriptions from some of these mouse color mutants are also available (with some pictures) at the Mouse Phenome Database.

The human gene mutation database is available at the HGMD of the University of Cardiff (registration required). The Albinism Database, at the University of Minnesota, includes mutations associated with all major known forms of oculocutaneous and ocular albinism. The Locus Specific Mutation Databases, at the Human Genome Variation Society, contain useful links to a variety of databases holding information about mutations of different genes.

Additional information can be found in the classical book "The Coat Colors of Mice" by Willys K. Silvers (Springer Verlag, 1979), available on-line, along with other related books,  through the Mouse Genome Informatics WEB site of The Jackson Laboratory.
 


Note: The links under the "Current symbol" row contain the most current information from The Jackson Laboratory - Mouse Genome Informatics MGI . The links under "Mouse Chromosome" and "Human Chromosome" contain all available molecular information at the ENSEMBL WEB SITE on the corresponding mouse and human genes, respectively. They also contain Mouse SNPs information of the corresponding mouse gene and all associated SNPs of the corresponding human gene, from the Single Nucleotide Polymorphism (SNPs) database of NCBI . New "Mouse Functional Genomics" features have been added. A direct link to KOMP (Knock-Out Mouse Project) has been included for all mouse genes (KO), this link includes connections to the EUCOMM (European Conditional Mouse Mutagenesis), NORCOM (North America Conditional Mouse Mutagenesis) and the Regeneron mouse knock-out programs, to check whether mice and/or ES cells gene targeted for this locus are available or not. The corresponding mice (mice), if available (alive or as frozen embryo and/or sperm stoks) can be found through the IMSR (International Mouse Strains Resource), In addition, the associated gene-traps ES cell clones (traps), through the IGTC (International Gene Trap Consortium) are also indicated, if available. The links under "Human Locus" or "Associated Disease" contain most updated information from the OMIM (Online Mendelian Inheritance of Man) . Also, under "Associated Diseases" it is included a direct link to the Albinism Database, held at the University of Minnesota, with information about mutations and polymorphisms of genes associated with different types of albinism. The column describing the corresponding protein encoded, includes a link, if available, to Gene Paint project Gene Paint Project illustrating the results of in situ hybridisation experiments of this locus on mouse embryos. A link to all NCBI databases (i.e. PubMed) with information about the gene or locus is also included. The links under "Murine Locus" provide illustrative images , if available, of mice displaying the phenotype of some alleles of the corresponding gene. Currently, this web site holds 88 mouse pictures. The zebrafish homologous loci, if available, have been included according to the Zebrafish Model Organism Database . A whole list of zebrafish pigmentation mutants, irrespective whether they have its correlate in mammals or not, can be obtained by inspecting this list.


Summary of the cloned mouse color genes, human and zebrafish homologues

Current symbol

Murine Locus

(pictures)

Mouse
Chrom.

KOMP

TRAPS

Human Locus

Human Chromosome

Associated Disease

Protein Encoded

Gene Paint Project

Function in Pigmentation  / Mutant phenotype

 

All NCBI

Databases

Zebrafish

locus

  Development

Acd

adrenocortical dysplasia

8

KO

traps

 

ACD

 

16q22.1

Unknown

Telomere capping. May affect pigmentation through excess ACTH

Hyperpigmented skin, adrenal hyperplasia, other organ disorders

acd

Adam17

a disintegrin and metalloproteinase domain 17, Adam17

12

KO

traps

 

ADAM17

 

2p25

Unknown

a disintegrin and metalloproteinase domain 17, Protease, processing various surface proteins

in situ

Irregular pigmentation in hairs

adam17a

adam17b

Adamts20

belted (bt)

Click to see mouse pictures of Adamsts20 alleles (1)

15

KO

traps

ADAMTS20

12q12

Unknown

A disintegrin and metalloprotease domain (reprolysin type) with thrombospondin type 1 motif, 20

in situ

Metalloprotease. Melanoblast migration? Lumbar white belt

Unknown

 

Apc

Adenomatous polyposis coli, allele tm2Rak

18

KO

traps

 

APC

 

5q22.2

Adenomatous polyposis coli

The APC gene encodes a multidomain protein that is an integral part of the beta-catenin and plays a major role in tumor suppression by antagonizing the WNT, Wnt pathway mediator; transcription factor

in situ

prenatal dorsal dark stripe and head patch

apc

Arcn1

archain 1,

nur17, neurological 17, (pale coat neuro)

9

KO

traps

 

ARCN1

 

11q23.3

Unknown

coatomer protein delta-COP, conserved across diverse eukaryotes

in situ

Diluted coat color (and neurological defects, early lethal)

arcn1

Bmpr1a

Bone morphogenetic protein receptor, type 1A, allele tm1Bh

14

KO

traps

BMPR1A

10q23.2

Juvenile polyposis syndrome

Bone morphogenetic protein receptor, type 1A

in situ

Abnormal prenatal RPE with discontinuity in pigmentation

bmpr1a

bmpr1ab

Bmpr1b

Bone morphogenetic protein receptor, type 1B, allele tm1Kml

3

KO

traps

BMPR1B

4q22.3

Brachydactyly, types A2, C;
chondrodysplasia

Bone morphogenetic protein receptor, type 1B

in situ

Abnormal prenatal RPE with discontinuity in pigmentation

bmpr1b

Brca1

Brca1

11

KO

traps

BRCA1

17q21

Breast/ovarian cancer

DNA repair; Tumor suppressor

in situ

Development of various organs; abnormal skin pigmentation

Unknown

Cited1

Cbp/p300-interacting transactivator with Glu/Asp-rich carboxy-terminal domain 1; Melanocyte-specific gene 1 (Msg1)

X

KO

traps

CITED1

Xq13.1

Unknown

Cbp/p300-interacting transactivator with Glu/Asp-rich carboxy-terminal domain 1

in situ

Involved in pigmentation in an undefined manner, expressed at high levels in the strongly pigmented melanoma cells but at low levels in the weakly pigmented cells, not fully penetrant perinatally/prenatally lethality in mice

Unknown

Dph1

DPH1 homolog (S. cerevisiae), Ovca1

 

11

KO

traps

DPH1

17p13.3

Unknown

diptheria toxin resistance protein required for diphthamide biosynthesis-like 1 (S. cerevisiae); ovarian cancer-associated gene 1

Delayed embryonic eye pigmentation. Mice homozygous for disruptions in this gene die perinatally or earlier. Numerous systems are affected

dph1

Dock7

dedicator of cytokinesis 7; misty (m), moonlight (mnlt)

4

KO

traps

DOCK7

1p31.3

Unknown

Dedicator of cytokinesis protein 7, widely expressed Rho family guanine nucleotide exchange factor

in situ

generalized hypopigmentation and localized white-spotting in mice, with a lack of pigment on the belly, tail tip, and paws; but melanocytes in vitro hyperpigmented

dock7

Ece1

Endothelin converting enzyme 1, allele tm1Reh

4

KO

traps

ECE1

1p36.12

Unknown

Endothelin converting enzyme 1; endothelin synthesis

in situ

in situ

No melanocytes in uvea, dorsal skin at birth (perinatal lethal)

Unknown

Edn3

endothelin 3, lethal spotting (ls)

Click to see mouse pictures of Adamsts20 alleles (1)

2

KO

traps

EDN3

20q13.2-q13.3

Waardenburg-Shah Syndrome

Melanoblast/neuroblast growth and differentiation factor

in situ

White spotting, megacolon and other neural crest defects

edn3a

edn3b

Ednrb

 

piebald spotting (s)

Click to see mouse pictures of Ednrb alleles (2)

14

KO

traps

EDNRB

13q22

Hirschsprung's disease type 2

endothelin receptor B; Edn3 receptor

in situ

White spotting, megacolon and other neural crest defects

ednrb1

Eed

embryonic ectoderm development

7

KO

traps

EED

11q14.2

Unknown

Polycomb-group (PcG) gene, homologous to Drosophila homeotic gene, extra sex combs

in situ

Diluted coat (dwarfism etc)

eed

Egfr

Epidermal growth factor receptor, dark skin 5 (dsk5)

11

KO

traps

EGFR

7p12.3

Unknown

epidermal growth factor receptor

in situ

dark skin

egfr

En1

Engrailed 1

1

KO

traps

EN1

2q14.2

Unknown

Homeobox protein engrailed-1; transcription factor

in situ

Hyperpigmentation of digits (polydactyly etc)

eng1a

eng1b

Fgfr2

Fibroblast growth factor receptor 2, Fgfr2

7

KO

traps

FGFR2

10q26

Crouzon syndrome
Apert syndrome
Pfeiffer syndrome

Fibroblast growth factor receptor 2

in situ

Lighter skin (many other defects)

fgfr2

Fkbp8

FK506 binding protein 8, allele tm1Tili

8

KO

traps

FKBP8

19p13.11

Unknown

Endogenous calcineurin inhibitor; can inhibit apoptosis

in situ

Microphthalmia/ anophthalmia

fkbp8

Foxd3

forkhead box D3, CWH3, Genesis, Hfh2

4

KO

traps

FOXD3

1p31.3

Vitiligo-associated multiple autoimmune disease associated 2, Susceptibility to autoimmune disease 1

forkhead box protein D3; transcription factor

in situ

Mutant mice are embryonic lethal. Essential for neural crest cells and melanoblasts formation

foxd3

Foxn1

forkhead box N1, allele tw (traveling wave)

11

KO

traps

FOXN1

17q11.2

Unknown

forkhead box protein N1; transcription factor

in situ

Hairless. Waves of dark/light travel slowly over skin (possible normal hair cycle + very short hairs)

foxn1

Frem2

Fras1 related extracellular matrix protein 2

allele my-F11

3

KO

traps

FREM2

13q13.3

Fraser syndrome

Extracellular protein. Possibly epithelial- mesenchymal interactions at basement membrane

in situ

in situ

Microphthalmia/ anophthalmia, patches of discolored or white fur

frem2a

frem2b

Fzd4

frizzled homolog 4 (Drosophila), allele tm1Nat

7

KO

traps

FZD4

11q14.2

Exudative vitreoretinopathy 1

 7-transmembrane domain protein that is receptor for Wnt  signaling proteins,  putatively for Wnt5a and/or Ndp

in situ

in situ

Many abnormalities including light or silvered coat

fzd4

Gas1

growth arrest specific 1, allele tm1Fan

13

KO

traps

GAS1

9q21.33

Holoprosencephaly

Can enhance hedgehog signaling, inhibit growth

in situ

in situ

in situ

in situ

RPE transdifferentiates to neural retina

gas1a

gas1b

Gata3

GATA binding protein 3, allele tm3Gsv

2

KO

traps

GATA3

10p14

hypoparathyroidism, sensorineural deafness, and renal disease (HDR) syndrome, Barakat syndrome

GATA binding protein 3, transcription factor

in situ

in situ

Extra stem-like cells in hair follicles; abnormal hair, irregular pigment deposition

gata3

Gli3

GLI-Kruppel family member GLI3

13

KO

traps

GLI3

7p14.1

Pallister-Hall syndrome, Greig Cephalopolysybdactyly syndrome and others

Signaling in Hedgehog pathway. Modifies SOX10 expression

in situ

White belly patch or lumbar belt; nervous system defects (homo- zygous postnatal lethal)

gli3

Gnaq

dark skin 1 (dsk1)
dark skin 10 (dsk10)

19

KO

traps

GNAQ

9q21

Diminished platelet aggregation

Guanine nucleotide binding protein subunit Gaq; Signal transduction possibly from an EDNR(s) to PLC

in situ

GPCR signalling: limits melanocyte proliferation / Dark skin (hyperproliferation of melanocytes)

gnaq

Gna11

dark skin 7 (dsk7)

10

KO

traps

GNA11

19p13

Unknown

Guanine nucleotide binding protein subunit Ga11

in situ

GPCR signalling: limits melanocyte proliferation / Dark skin (hyperproliferation of melanocytes)

gna11

Gnpat

glyceronephosphate O-acyltransferase, allele tm1Just

8

KO

traps

GNPAT

1q42.2

type 2 rhizomelic chondrodysplasia punctata (RCDP2)

glyceronephosphate O-acyltransferase

in situ

Abnormal RPE morphology, microphthalmia

gnpat

Gpc3

glypican 3, allele tm1Arge

X

KO

traps

GPC3

Xq26.2

Simpson-Golabi-Behmel syndrome type 1

glypican 3; GPI-linked extracellular membrane protein. Putative SHH-binding (competitive with PTCH)

in situ

dominant distal and belly spotting

gpc3

Gpr161

G protein-coupled receptor 161

vacuolated lens (vl)

1

KO

traps

GPR161

1q24.2

Unknown

Signal transduction; G protein-coupled receptor 161, G-protein coupled receptor RE2

in situ

Vacuolated lens, occasional belly spot, spine development

gpr161

Grlf1

glucocorticoid receptor DNA binding factor 1 (p190 RhoGAP)

7

KO

traps

GRLF1

19q13.32

Unknown

glucocorticoid receptor DNA binding factor 1; Transcriptional repressor

in situ

RPE hyperplasia, microphthalmia

Unknown

Hells

helicase, lymphoid specific

7

KO

traps

HELLS

10q23.33

Unknown

DNA methylation, gene silencing

Early ageing includes graying by 15d old; p16 overexpression

hells

Ihh

Indian hedgehog

1

KO

traps

IHH

2q35

acrocapitofemoral dysplasia

type A1 brachydactyly

A member of the 'hedgehog' gene family, primarily regulates chondorcyte differentiation

in situ

Ihh is required for the normal pigmentation pattern of the RPE, skeletal defects, limb dwarfism, mutant mice die perinataly

ihha

ihhb

Itgb1

integrin beta 1, allele tm1Ref

8

KO

traps

ITGB1

10p11.22

Unknown

integrin beta 1 (fibronectin receptor beta); cell attachment, migration

in situ

transient patchy hypopigmentation, crest migration defect

itgb1a

itgb1b

itgb1b.1

itgb1b.2

Jmjd6

Jumonji domain containing 6, allele tm1Gbf

11

KO

traps

JMJD6

17q25.2

Unknown

Demethylates histones. Transcriptional regulator

Lack of one/both eyes, ectopic RPE in nose

jmjd6

Kit

 

Kit oncogene, dominant white-spotting (W)

Click to see mouse pictures of Kit alleles (4)

5

KO

traps

KIT

4q11-12

Piebaldism

Receptor for Kit ligand/SCF; required for melanoblast survival, homing

in situ

in situ

White spotting, anemia and germ-cell deficiency

kita

Kitl

steel (Sl)

10

KO

traps

KITLG

12q22

Unknown

Stem cell factor (SCF)
(Kit ligand); melanoblast growth and differentiation factor

in situ

in situ

White spotting, anemia and germ-cell deficiency

kitlga

Krt1

keratin 1, dark skin 12 (dsk12)

15

KO

traps

KRT1

12q13

epidermolytic hyperkeratosis

cytoskeleton

dark skin, Primary action in keratinocytes. Limits melanization

krt1-c5

krt1-19d

krt1-11b

Krt17

keratin 17, allele tm1Cou

11

KO

traps

KRT17

17q21.2

Pachyonychia congenita type 2 (Jackson-Lawler type).

Steatocystoma multiplex

cytoskeleton

dark skin, abnormal hairs with clustered melanin granules

zgc:92061

Krt2

keratin 2-17, dark skin 2 (dsk2)

15

KO

traps

KRT2A

12q11-q13

Ichthyosis bullosa of Siemens

cytoskeleton; keratin complex 2, basic, gene 17

in situ

dark skin

Unknown

Krt4

keratin 4

15

KO

traps

KRT4

12q13.13

White Sponge Nevus of Cannon

cytoskeleton

“bright” diluted coat color

krt4

Krt75 keratin 75, allele tm1Der

15

KO

traps

KRT75

12q13.13

Unknown

cytoskeleton

in situ

hair defects with variable pigment clumping

Unknown

Lef1

lymphoid enhancer binding factor 1, allele tm1Rug

3

KO

traps

LEF1

4q25

Sebaceous adenomas

transcription factor, Wnt/b-catenin mediator, Mutations result in impaired binding to beta-catenin

in situ

 underdeveloped hair follicles lacking melanin

lef1

Lmx1a

LIM homeobox transcription factor 1 alpha, dreher (dr)

1

KO

traps

LMX1A

1q22-23

Unknown

LIM homeodomain protein 1, transcription factor

Partial or complete white belt and/or belly spot

lmx1a

Mab21l2

Mab-21-like 2 (C. elegans), allele tm1Nao

3

KO

traps

MAB21L2

4q31.3

Unknown

Cell fate determination, TGFβ signaling

in situ

lack of RPE by time of embryonic lethality

mab21l2

Map2k1

MAP kinase kinase 1, Mek1, Prkmk1

9

KO

traps

MAP2K1

15q22.31

Unknown

mitogen-activated protein kinase kinase 1

in situ

in situ

activated Map2k1 induces transdifferentiation of RPE cells to neural retina by inhibiting Mitf

map2k1

Mbtps1

membrane-bound transcription factor peptidase, site 1, allele wrt

8

KO

traps

MBTPS1

16q23.3-q24.1

Unknown

Peptidase involved in regulation of membrane lipid composition

in situ

Diluted hair with white base (melanocyte death?)

mbtps1

Mcoln3

mucolipin 3, varitint-waddler (Va)

3

KO

traps

MCOLN3

1p22.3

Unknown

Cation channel, ion homeostasis?

in situ

Patches of normal, diluted and white hair (and behavioral defects)

mcoln3

Med1

mediator complex subunit 1, (Peroxisome proliferator-activated receptor-binding protein, Pparbp)

11

KO

traps

MED1

17q12

Unknown

Binds methylated DNA. DNA repair. Mediator of RNA polymerase II transcription subunit 1, (Thyroid hormone receptor- associated protein complex 220 kDa component,  Trap220)

in situ

Low retinal pigmentation (before embryonic lethality)

med1

Mitf

microphthalmia (mi)

Click to see mouse pictures of pwk alleles (27)

6

KO

traps

MITF

3p12-14

Waardenburg syndrome type 2

transcription factor, master regulator of melanocyte lineage

melanocyte differentiation, White spotting and small or absent eyes

mitfa

mitfb

Mpzl3

myelin protein zero-like 3 (allele rough coat, rc)

9

KO

traps

MPZL3

11q23.3

Unknown

Putative adhesion protein, expressed in keratinocytes

Hair follicle loss, black pigment changes to light brown

mpzl3

Myc

myelocytomatosis oncogene (when KO targeted by Wnt1 promoter-Cre)

15

KO

traps

MYC

8q24.21

Unknown

Myc proto-oncogene protein  (c-myc), Transcription factor, regulator of cell proliferation

in situ

in situ

Pigmentary spotting, not head

myca

mycb

Ndp

Norrie disease homolog (allele tm1Wbrg)

X

KO

traps

NDP

Xp11.4

Norrie disease

pseudoglioma

Norrin, TGFβ-like extracellular factor. FZD4 and LRP5 also associated with human Norrie disease

in situ

Many defects including hyperpigmentation of RPE and overgrowth of strial melanocytes

ndp

Nf1

neurofibromatosis 1

11

KO

traps

NF1

17q11.2

Neurofibromatosis type 1

RAS GTPase-activating protein Neurofibromin 1

in situ

Small, unpigmented eyes – microphthalmia
(Ras pathway)

nf1

Notch1

Notch gene homolog 1 (Drosophila)

2

KO

traps

NOTCH1

9q34.3

Unknown

Receptor for ligands in Delta and Jagged families

in situ

in situ

in situ

Scattered grey hairs, when KO targetted to melanocytes (Tyr-Cre)

notch1a

notch1b

Notch2

Notch gene homolog 2 (Drosophila)

3

KO

traps

NOTCH2

1p12

Alagille Syndrome 2

Receptor for ligands in Delta and Jagged families

in situ

Scattered grey hairs, when KO targetted to melanocytes (Tyr-Cre). All grey with Notch1 KO, eventually white

notch2

Nr2e1

nuclear receptor subfamily 2, group E, member 1 (allele fierce, frc)

10

KO

traps

NR2E1

6q21

Unknown

Transcriptional repressor, recruits HDAC to DNA, stem cell maintenance

in situ

in situ

in situ

Brain and eye defects. Asymmetrical and mottled RPE

nr2e1

Ntrk1

neurotrophic tyrosine kinase, receptor, type 1 (TrkA)

3

KO

traps

NTRK1

1q23.1

Insensitivity to pain, congenital, with anhidrosis (CIPA)

Co-receptor for nerve growth factor

in situ

Mottled coat (also neural defects, skin lesions)

ntrk1

Otx2

orthodenticle homolog 2 (Drosophila)

14

KO

traps

OTX2

14q23.1

Dysgnathia complex

Hox-like transcription factor, can induce RPE identity in neural retina

in situ

in situ

in situ

in situ

in situ

in situ

in situ

in situ

Many effects including RPE hyperplasia

otx2

Pax2

paired box gene 2

19

KO

traps

PAX2

10q24.31

Unknown

PAX-2 transcription factor

in situ

Many effects including RPE cells extending into optic nerve

pax2a

pax2b

Pax3

splotch (Sp)

1

KO

traps

PAX3

2q35

Waardenburg syndrome type 1

WS type 3

PAX-3 transcription factor

in situ

in situ

neural tube development

pax3

Pax6

paired box gene 6 (small eye, Sey)

2

KO

traps

PAX6

11p13

Aniridia

Other eye disorders

PAX-6 transcription factor

in situ

in situ

in situ

in situ

Eye abnormalities can include reduced RPE, also distal/ventral white spotting

pax6a

pax6b

Pcbd1

pterin 4 alpha carbinolamine dehydratase/ dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 1

10

KO

traps

PCBD1

10q22.1

Hyperphenylalaninemia with primapterinuria

Both phenylalanine metabolism and binding partner of TCF1 (HNF1), hence WNT pathway interaction

in situ

Mild hypopigmentation, belly spot, mild microphthalmia

pcbd1

Pdgfb

platelet derived growth factor, B polypeptide

15

KO

traps

PDGFB

22q13.1

Meningioma

platelet derived growth factor, B polypeptide

in situ

Cardiovascular and eye defects include abnormal RPE, microphthalmia

pdgfb

Pdgfc

platelet derived growth factor, C polypeptide

3

KO

traps

PDGFC

4q32.1

Unknown

platelet derived growth factor, C polypeptide

in situ

Depigmented spots in the retina

pdgfc

Phactr4

phosphatase and actin regulator 4, allele humpty dumpty

4

KO

traps

PHACTR4

1p35.3

Unknown

Regulator of protein phosphatase 1 and its dephosphorylation of RB1

in situ

Neuroblast overgrowth; outgrowths in RPE

phactr4

Pitx3

paired-like homeodomain transcription factor 3 (aphakia, ak)

19

KO

traps

PITX3

10q24.32

Congenital cataract

Transcription factor. CNS neuronal differentiation

in situ

in situ

Eye abnormalities including hyperpigmentation around embryonic pupil

pitx3

Pygo1

pygopus 1, homolog (Drosophila)

9

KO

traps

PYGO1

15q21.3

Unknown

Cofactor for β-catenin- LEF-mediated transcription

in situ

eye and other defects including folded RPE

pygo1

Rb1

Retinoblastoma 1 (targeted)

14

KO

traps

RB1

13q14.2

Retinoblastoma 1

Growth-inhibitor, suppresses E2F transactivation activity

in situ

melanocyte over-proliferation in culture

rb1

Recql4

RecQ protein-like 4

15

KO

traps

RECQL4

8q24.3

Rothmund-Thomson syndrome (RTS)

DNA helicase that unwinds double-stranded DNA into single-stranded DNAs

in situ

Mutant mice show growth retardation and skin abnormlaities, including patches of colorless hair; premature graying of fur

recql4

Rs1

retinoschisis (X-linked, juvenile) 1 (human), allele tmgc1

X

KO

traps

RS1

Xp22.13

retinoschisis (X-linked, juvenile) 1

Retinal protein; homologies to cell-adhesion proteins

in situ

small patches of depigmentation in RPE

rs1

S1pr2

sphingosine-1-phosphate receptor 2 (Edg5), allele tm1Rlp

9

KO

traps

S1PR2

19p13.2

Unknown

sphingosine-1-phosphate receptor 2

in situ

Inner ear abnormalities include thickening & hyper-pigmentation of stria vascularis

s1pr2

Sema3c

sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C

5

KO

traps

SEMA3C

7q21.11

Unknown

Secreted signaling factor, can mediate axon repulsion

in situ

Some skin hypopigmentation, ectopic pigment in internal organs

sema3c

Sema4a

sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A

3

KO

traps

SEMA4A

1q22

Retinitis pigmentosa 35

Transmembrane juxtacrine signaling protein

in situ

Abnormal RPE, postnatal depigmentation of eye

Unknown

Sfxn1

flexed tail (f)

13

KO

traps

SFXN1

5q35.3

Unknown

Tricarboxylate carrier protein (TCC)

Note: there is an alternative identification of f as Smad5

in situ

Belly spot (and flexed tail, anemia etc)

sfxn1

Snai2

snail homolog 2 (Drosophila)

16

KO

traps

SNAI2

8q11

Waardenburg syndrome 2

Transcription factor

in situ

in situ

Spotting, head blaze, pale hair and skin, neural crest and other organ defects

snai2

Sox10

 

SRY-box containing gene 10, Dominant megacolon (Dom)

Click to see mouse pictures of Sox10 alleles (2)

15

KO

traps

SOX10

22q13

Waardenburg-Shah Syndrome

Transcription factor

in situ

White spotting, megacolon and other neural crest defects

sox10

Sufu

suppressor of fused homolog (Drosophila)

19

KO

traps

SUFU

10q24.32

medulloblastoma

Cytoplasmic signaling intermediate

in situ

CNS, dark hair, basal cell lesions on skin (Hh pathway suppressor)

sufu

Tbx10

T-box 10 (Dc, dancer)

19

KO

traps

TBX10

11q13.2

Unknown

T-box 10 transcription factor (ectopic expression in Dc)

in situ

Head spot (variable); ear, palate & neural defects

Unknown

Tbx15

T-box 15 (de, droopy ear)

3

KO

traps

TBX15

1p12

Cousin syndrome

T-box 15 transcription factor

in situ

Ear shape; skeletal, altered dorsoventral color pattern with At, ae

tbx15

Tcfap2a

transcription factor AP-2, alpha

13

KO

traps

TFAP2A

6p24

Unknown

Transcription factor
Can regulate kit

in situ

Mouse knock-out (Wnt1-targeted) produces neural crest defects including coat color alterations

tfap2a

Timp3

tissue inhibitor of metalloproteinase 3

10

KO

traps

TIMP3

22q12.3

Fundus dystrophy, pseudoinflammatory, of Sorsby

Protease inhibitor and can block VEGF binding to receptor

in situ

Abnormal RPE morphology

timp3

Traf6

Tnf receptor-associated factor 6

2

KO

traps

TRAF6

11p12

Ectodermal dysplasia, anhidrotic

Signaling from IL1A to NFκB

in situ

Many effects including pale skin, few/delayed hair follicles. Postnatal lethal

traf6

Tub

tubby candidate gene

7

KO

traps

TUB

11p15.4

Unknown

Anti-apoptotic; downstream mediator of Gq signaling

Obese; eye and ear abnormalities; degeneration and loss of RPE.

tub

Unc119

unc-119 homolog (C. elegans)

11

KO

traps

UNC119

17q11.2

Knobloch syndrome type I

proposed receptor- associated activator of SRC-family kinases

in situ

Retinal degeneration; mottling of RPE

unc119-1

unc119-2

Vsx2

visual system homeobox 2

12

KO

traps

VSX2

14q24.3

Unknown

Pax-like transcription factor

Microphthalmia, reduced eye pigmentation

vsx2

Wnt1

wingless-related MMTV integration site 1

15

KO

traps

WNT1

12q13

Unknown

Growth factor/morphogen

in situ

Defects of neural crest including melanoblasts in mice lacking both Wnt1 and Wnt3a

wnt1

Wnt3a

wingless-related MMTV integration site 3A

11

KO

traps

WNT3A

1q42

Unknown

Growth factor/morphogen

in situ

Defects of neural crest including melanoblasts in mice lacking both Wnt1 and Wnt3a

wnt3l

Zbtb17

zinc finger and BTB domain containing 17

4

KO

traps

ZBTB17

1p36.13

Unknown

Transcription factor

in situ

Darkened coat (mixed strain background); dark skin, dark dermis around hairs, Abnormal follicles

Zbtb17

Zfp53

zinc finger protein 53

17

KO

traps

ZFP53

Unknown

Unknown

Transcription factor?

in situ

Abnormal skin pigmentation

Unknown

Zic2

Transcription factor, Kumba (Ku)

14

KO

traps

ZIC2

13q32

Holoprosencephaly 5

Transcription factor

in situ

neural crest formation and hindbrain patterning
belly spot, curly tail

zic2a

zic2b

  Components of melanosomes and their precursors

Dct

 

tyrosinase related protein 2 (TRP2), slaty (slt)

Click to see mouse pictures of Dct alleles (4)

14

KO

traps

DCT

13q31-q32

Unknown

DOPAchrome tautomerase, melanosomal enzyme

in situ

Dilution of eumelanin color

dct

Gpnmb

iris pigment dispersion (ipd)

6

KO

traps

GPNMB

7q

pigment-dispersion syndrome (GPDS1)?

Glycoprotein (transmembrane), apparent melanosomal component

in situ

Glaucoma, iris pigment epithelium disorders, especially with Tyrp1b/b

Unknown

Pmel

gp100/gp87/silver protein, Pmel17, silver (si)

Click to see mouse pictures of Adamsts20 alleles (1)

10

KO

traps

PMEL

12q13-q14

Unknown

premelanosome protein, melanosomal matrix protein, trapping of melanin intermediates?

in situ

Silvering with postnatal melanocyte loss in eumelanic animals (varying with strain background) in Pmelsi. Mild effect on visible pigmentation, substantial reduction in eumelanin content in hair and spherical melanosomes in Pmeltm1Sson

publication

silva

silvb

Slc24a5

solute carrier family 24, member 5 (NCKX5)

2

KO

traps

SLC24A5

15q21.1

Unknown

Calcium transporter,
melanosomal?

in situ

 Skin, eye color

slc24a5

Slc45a2

underwhite (uw)

Matp

15

KO

traps

SLC45A2

5p

oculocutaneous albinism type 4 (OCA4)

Solute transporter,  Membrane-associated transporter protein (Matp)

in situ

Severe dilution of coat and eye pigment

slc45a2

Tyr

tyrosinase, albino, color (c)

Click to see mouse pictures of Tyr alleles (24)

7

KO

traps

TYR

11q21

oculocutaneous albinism type 1 (OCA1)

melanogenic enzyme

No pigment in null mice (multiple allelic variants)

tyr

Tyrp1

tyrosinase related protein 1 (TRP1), brown (b)

Click to see mouse pictures of Tyr alleles (3)

4

KO

traps

TYRP1

9p23

oculocutaneous albinism type 3 (OCA3)

Rufous albinism

melanosomal enzyme/stabilizing factor

in situ

Brown eumelanin. Allele isa can contribute to glaucoma

tyrp1a

tyrp1b

  Melanosome construction / protein routing (HPS-related)

Ap3b1

pearl (pe)

13

KO

traps

AP3B1

5q14.1

Hermansky Pudlak syndrome type 2

HPS - General

beta-3 subunit of adaptor protein 3 complex (AP-3)

in situ

Organellar protein routing

ap3b1

Ap3d1

mocha (mh)

10

KO

traps

AP3D1

19p13.3

Unknown

delta subunit of adaptor protein 3 complex (AP-3)

in situ

Organellar protein routing

ap3d1

Bloc1s3

Reduced pigmentation (rp)

7

KO

traps

BLOC1S3

19q13.32

Hermansky Pudlak syndrome type 8

Unknown

in situ

a component of the BLOC1 protein transport complex

Unknown

Cno

cappuccino (cno)

5

KO

traps

CNO

4p16-p15

Unknown

Unknown

in situ

Organelle biogenesis

cno

Dtnbp1

sandy (sdy)

13

KO

traps

DTNBP1

6p22.3

Hermansky Pudlak syndrome type 7

HPS - General

dysbindin

in situ

lysosome-related organelles complex 1 (BLOC-1)

dtnbp1a

dtnbp1b

Fig4

pale tremor (plt)

Click to see mouse pictures of Fig4 alleles (1)

10

KO

traps

 FIG4

6q21

Charcot-Marie-Tooth (CMT) disease type 4J

Phosphatidylinsositol-(3,5)-bisphosphate 5-phosphatase

 late endosome-lysosome axis, Pale skin neonatally, few hair follicles, clumped melanosomes (and  immune effects etc)

Unknown

Gpr143

Oa1 (oa1)

X

KO

traps

GPR143

Xp22.3

ocular albinism type 1

G-protein-coupled receptor (GPR143)

in situ

Melanosome Biogenesis
signal transduction

gpr143

Hps1

pale ear (ep)

19

KO

traps

HPS1

10q23

Hermansky Pudlak syndrome type 1

HPS - General

membrane protein

in situ

Organelle biogenesis and size

hps1

Hps3

cocoa (coa)

3

KO

traps

HPS3

3q24

Hermansky Pudlak Syndrome type 3

HPS - general

Unknown

Organelle biogenesis

hps3

Hps4

light ear (le)

5

KO

traps

HPS4

22q11.2-q12.2

Hermansky Pudlak Syndrome type 4

HPS - General

Unknown

in situ

Organelle biogenesis and size

hps4

Hps5

Ruby-eye 2 (ru2)

7

KO

traps

HPS5

11p15-p13

Hermansky Pudlak syndrome type 5

HPS - General

Unknown

biogenesis of lysosome-related organelles complex-2

Unknown

Hps6

Ruby-eye (ru)

19

KO

traps

HPS6

10q24.31

Hermansky Pudlak syndrome type 6

HPS - General

Unknown

in situ

biogenesis of lysosome-related organelles complex-2

hps6

Lyst

beige (bg)

13

KO

traps

LYST

1q42

Chediak Higashi syndrome

membrane protein

in situ

Organelle biogenesis and size

lyst

Muted

muted (mu), Txndc5

13

KO

traps

MUTED

6p24.3-25.1

Unknown

BLOC-1 subunit, TXNDC5

in situ

Organelle biogenesis

txndc5

Oca2

 

pinkeyed-dilution (p)

Click to see mouse pictures of p alleles (6)

7

KO

traps

OCA2

15q11.2-q12

oculocutaneous albinism type 2 (OCA2)

Unknown

in situ

Melanosome biogenesis and size

oca2

Pldn

pallid (pa)

2

KO

traps

 PLDN

15q15

Hermansky-Pudlak syndrome-9

pallidin, BLOC-1, BLOC-1 subunit

in situ

vesicle-docking and fusion

pldn

Rab38

chocolate (cht)

Click to see mouse pictures of Rab38 alleles (1)

7

KO

traps

RAB38

11q14

Unknown

Member of RAS oncogene family

in situ

Targeting of Tyrp1 protein to the melanosome

rab38a

rab38b

Rabggta

gunmetal (gm)

14

KO

traps

RABGGTA

14q11.2

Unknown

alpha-subunit of rab geranylgeranyl transferase

in situ

Organelle biogenesis

rabggta

Shroom2

shroom family member 2; Apxl, Shrm2

X

KO

traps

SHROOM2

Xp22.2

Distinct form of ocular albinism type 1

amiloride-sensitive sodium channel activity

in situ

regulates melanosome biogenesis and localization in the RPE

Unknown

Trappc6a

trafficking protein particle complex 6A

7

KO

traps

TRAPPC6A

19q13.32

Unknown

trafficking protein particle complex 6A

in situ

Pale patches in the coat and RPE

Unknown

Vps33a

buff (bf)

5

KO

traps

VPS33A

12q24.31

Unknown

vacuolar protein sorting 33a

in situ

Organellar protein routing

vps33a

  Melanosome transport

Mlph

leaden (ln)

1

KO

traps

MLPH

2q37

Griscelli syndrome (?)

melanophilin

in situ

melanosome transport

mlpha

mlphb

Mreg

dilute suppressor (dsu)

1

KO

traps

MREG

2q35

Unknown

whn-dependent transcript 2 (Wdt2)

Melanoregulin

in situ

Melanosome transport

Unknown

Myo5a

dilute (d)

9

KO

traps

MYO5A

15q21

Griscelli syndrome

myosin type Va

in situ

melanosome transport

myo5a

Myo7a

shaker-1 (sh-1)

7

KO

traps

MYO7A

11q13.5

Usher syndrome type IB

Myosin type VIIa

in situ

Melanosome transport in RPE

myo7a

Rab27a

ashen (ash)

9

KO

traps

RAB27A

15q21

Griscelli syndrome

RAS associated protein

in situ

melanosome transport

rab27a

  Eumelanin and Pheomelanin

a

 

nonagouti (a)

Click to see mouse pictures of a alleles (9)

2

KO

traps

ASIP

20q11.2

hair color/skin type

agouti signal protein (ASIP)

in situ

Eumelanin / pheomelanin switch

asip

asip2

Atrn

mahogany (mg)

2

KO

traps

ATRN

20p13

Unknown

Attractin

in situ

Eumelanin / pheomelanin switch (among others)

atrn

Drd2

Dopamine receptor 2, allele tm1mok

9

KO

traps

DRD2

11q23.1-23.2

Unknown

Dopamine receptor 2

in situ

in situ

in situ

in situ

in situ

in situ

in situ

Agouti color darkened. POMC level raised

drd2a

drd2b

Eda

Tabby (Ta)

X

KO

traps

ED1

Xq12-q13

Ectodermal dysplasia type 1

ectodysplasin-A

in situ

Sweat gland, tooth and hair morphogenesis

eda

Edar ectodysplasin-A receptor

10

KO

traps

EDAR

2q12.3

autosomal recessive hypohidrotic ectodermal dysplasia

ectodysplasin-A receptor

in situ

hyperpigmentation, hair morphogenesis

edar

Edaradd

Ectodysplasin A receptor-associated death domain (cr, crinkled)

13

KO

traps

EDARADD

1q43

autosomal recessive hypohidrotic ectodermal dysplasia

Delayed hair growth, agouti coat darker dorsally, yellower laterally

in situ

Ectodysplasin A receptor-associated death domain

edaradd

Ggt1

gamma-glutamyltransferase 1,

dwarf grey (dwg)

10

KO

traps

GGT1

22q11.23

glutathionuria

gamma-glutamyltransferase 1; glutathion homeostasis (pheomelanin synthesis)

in situ

premature greying, many abnormalities including impaired growth, skeletal abnormalities, cataracts, lethargic behavior, sterility, and shortened life span

ggt1

L1cam

Neural cell adhesion molecule L1, allele tm1Sor

X

KO

traps

L1CAM

Xq28

X-linked hydrocephalus, MASA/Crash syndrome

Neural cell adhesion molecule L1

in situ

in situ

black fur patches on agouti

nadl1.1

nadl1.2

Mc1r

extension (e)

8

KO

traps

MC1R

16q24.3

hair color/skin type

Melanocortin 1 receptor

in situ

Eumelanin / pheomelanin switch

mc1r

Mchr1

melanin-concentrating hormone receptor 1

15

KO

traps

MCHR1

22q13.2

Unknown

melanin-concentrating hormone receptor 1

In fish, involved in melanosome aggregation and, hence, depigmentation in response to environmental changes. In mammals regulates feeding behavior.

mchr1a

mchr1b

Mgrn1

mahogunin, ring finger 1, Mahoganoid (md)

16

KO

traps

MGRN1

16p13.3

Unknown

Mahogounin, ring finger 1

E3 ubiquitin ligase?

in situ

Melanin color
Spongiform Degeneration

mgrn1

Ostm1

grey-lethal (Gl)

10

KO

traps

OSTM1

6q21

autosomal recessive osteopetrosis

Unknown

in situ

Pheomelanin and osteoclast function

ostm1

Pmch

pro-melanin-concentrating hormone; Mch, melanin-concentrating hormone

10

KO

traps

PMCH

12q23.2

Unknown

Precursor of the melanin-concentrating hormone

in situ

In fish, involved in melanosome aggregation and, hence, depigmentation in response to environmental changes. Mutant mice show reduced food intake and increased oxygen consumption

pmch

Pomc

Pomc1

12

KO

traps

POMC

2p23.3

Red Hair

Proopiomelanocortin, including Melanocyte Stimulating Hormone (MSH)

in situ

Eumelanin / pheomelanin switch
(and endocrine functions)

pomca

pomcb

Slc7a11

subtle gray (sut)

3

KO

traps

SLC7A11

4

Unknown

solute carrier family 7 (cationic amino acid transporter, y+ system), member 11

in situ

Cystine transporter needed for pheomelanin synthesis

Unknown

Smarca5

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5, allele MommeD4

8

KO

traps

SMARCA5

4q31.21

Unknown

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5

in situ

Dominant mottled coat with Ay/-

smarca5

Smchd1

structural maintenance of chromosomes (SMC) flexible hinge domain containing 1, (MommeD1)

17

KO

traps

SMCHD1

18p11.32

Unknown

Modifies imprinting,

X-inactivation

in situ

Affects percentage of female yellow pups on Avy background.

smchd1

Sox18

ragged (rg)
dark coat color 1 (Dcc1)

2

KO

traps

SOX18

20q13.33

Unknown

SRY-box containing gene 18

in situ

transcription factor

sox18

Sox2

SRY-box containing gene 2 (ysb, yellow submarine)

3

KO

traps

SOX2

3q26.33

Microphthalmia, anophthalmia, neural and pituitary defects

Transcription factor Sox2

in situ

Yellow hair, neural, deafness
Sox2 regulates Notch1 in eye

sox2

  Systemic effects

Atox1

Antioxidant protein 1 homolog 1 (yeast)

11

KO

traps

ATOX1

5q32

Unknown

Copper transport protein ATOX1

in situ

copper transport

(hypopigmentation)

Unknown

Atp7a

mottled (mo)

X

KO

traps

ATP7A

Xq12-q13

Menkes disease

ATPase, Cu(2+)-Transporting alpha polypeptide

in situ

copper transport

atp7a

Atp7b

toxic milk (tx)

8

KO

traps

ATP7B

13q14.3-q21.1

Wilson disease

copper-transporting P-type ATPases

in situ

copper transport

atp7b

Bcl2

B-cell leukemia/lymphoma 2

1

KO

traps

BCL2

18q21.3

follicular lymphomas

Inhibitor of apoptosis

in situ

Mutant mice show hair graying

bcl2

Casp3

Caspase 3, allele tm1Flv

8

KO

traps

CASP3

4q35.1

Unknown

Caspase 3, apoptosis related cystein protease

in situ

in situ

in situ

Abnormal RPE
(molecular function in apoptosis)
 

casp3a

casp3b

Dst

Dystonin (dt, ah), allele dt-J; (dystonia musculorum; athetoid)

1

KO

traps

DST

6p12.1

Unknown

Dystonin

in situ

Pale skin

dst

Elovl3

Elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 3, allele tm1Jaco

19

KO

traps

ELOVL3

10q24.32

Unknown

Elongation of very long chain fatty acids protein 3

in situ

Abnormal hairs with scattered hyperpigmentation

Unknown

Elovl4

Elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4, allele tm1Jaco

9

KO

traps

ELOVL4

6q14.1

Stargardt Disease 3

Elongation of very long chain fatty acids protein 4

Abnormal retinae including RPE, macular distrophy with flecks

elovl4

Ercc2

Ercc2

7

KO

traps

ERCC2

19q13

xeroderma pigmentosum group D

excision repair cross-complementing rodent repair deficiency, complementation group 2

in situ

Nucleotide excision repair (NER)

ercc2

Fas

Fas (TNF receptor superfamily member 6)

19

KO

traps

FAS

10q23.31

Unknown

Fas (TNF receptor superfamily member 6)

in situ

Fewer strial melanocytes on certain background

fas

Heph

hephaestin; sex-linked anemia (sla)

X

KO

traps

HEPH

Xq12

Unknown

hephaestin

in situ

abnormal pigment location in RPE

hephl1

Hs2st1

heparan sulfate 2-O-sulfotransferase 1

3

KO

traps

HS2ST1

1p22.3

Unknown

heparan sulfate 2-O-sulfotransferase 1

abnormal RPE differentiation

hs2st1

Oat

ornithine aminotransferase

7

KO

traps

OAT

10q26.13

Ornithine aminotransferase deficiency, Gyrate atrophy

ornithine aminotransferase

in situ

Abnormal RPE cell morphology

Unknown

Pah phenylalanine hydroxylase

10

KO

traps

PAH

12q23.2

Phenylketonuria

phenylalanine hydroxylase

in situ

Effects include hypopigmentation, worsening

pah

Pdpk1 3-phosphoinositide dependent protein kinase-1, allele tm1Bcol

17

KO

traps

PDPK1

16p13.3

Unknown

3-phosphoinositide dependent protein kinase-1

in situ

Abnormal eye pigmentation

pdpk1a

pdpk1b

Polg polymerase (DNA directed), gamma

7

KO

traps

POLG

15q26.1

Alpers syndrome

polymerase (DNA directed), gamma

General premature ageing including coat graying

polg

Polh polymerase (DNA directed), eta (RAD 30 related)

17

KO

traps

POLH

6p21.1

Xeroderma pigmentosum, variant type V (XPV)

polymerase (DNA directed), eta (RAD 30 related)

in situ

Pigment (melanocyte?) accumulation in ear skin following UV

Unknown

Pts 6-pyruvoyl-tetrahydropterin synthase

9

KO

traps

PTS

11q23.1

BH4-deficient hyperphenylalaninemia

6-pyruvoyl-tetrahydropterin synthase

in situ

Coat dilution (low biopterin, high Phenylalanine)

pts

Rbp1 retinol binding protein 1, cellular

9

KO

traps

RBP1

3q23

Unknown

retinol binding protein 1, cellular

in situ

abnormal RPE morphology

rbp1a

rbp1b

Rbpj recombination signal binding protein for immunoglobulin kappa J region (RBP-J)(Tyr targeted KO)

5

KO

traps

RBPSUH

4p15.2

Unknown

recombination signal binding protein for immunoglobulin kappa J region

Hair depigmentation, other melanocytes not affected

rbpja

rbpjb

 

Rpl24 belly spot and tail (Bst)

16

KO

traps

RPL24

3q12.3

Unknown

Ribosomal protein L24, Function presumably in protein synthesis

in situ

Eye, coat, skeletal

rpl24

Rps19 Ribosomal protein S19, Dark skin 3 (Dsk3)

7

KO

traps

RPS19

19q13.2

Diamond-Blackfan anemia (DBA)

Ribosomal protein S19, mutation results in p53 stabilization and Kitl expression in keratinocytes

in situ

In mice, dark skin in ears, footpads and tails, increased number of melanocytes in the epidermis

rps19

Rps20 Ribosomal protein S20, Dark skin 4 (Dsk4)

4

KO

traps

 

RPS20

8q12.1

Unknown

Ribosomal protein S20, mutation results in p53 stabilization and Kitl expression in keratinocytes

in situ

In mice, dark skin in ears, footpads and tails, increased number of melanocytes in the epidermis

rps20

Rxra retinoid X receptor alpha

2

KO

traps

RXRA

9q34.2

Unknown

retinoid X receptor alpha

in situ

in situ

Premature hair graying then hair loss

rxraa

rxrab

Slc31a1 solute carrier family 31, member 1

4

KO

traps

SLC31A1

9q32

Unknown

solute carrier family 31, member 1

in situ

Copper deficiency, hypopigmentation

slc31a1

Trpm7 transient receptor potential cation channel, subfamily M, member 7
[touchtone(tct) and nutria in zebrafish]

2

KO traps

TRPM7

15q21.2

Amyotrophic lateral sclerosis -parkinsonism/dementia complex of Guam, Guam disease

Transient receptor potential melastatin 7, broadly expressed, non-selective cation channel. In zebrafish, embryonic melanophores require Trpm7 to promote survival and to detoxify intermediates of melanin synthesis

in situ

In zebrafish, pale color, mutant embryonic melanophores die, but regeneration melanophores and adult melanophores are OK, unable to overcome redox stress associated to melanin synthesis, skeleton and kidney defects,  in mice, null allele is embryonic lethal

trpm7

(1)

Vldlr very low density lipoprotein receptor

19

KO

traps

VLDLR

9p24.2

Cerebellar hypoplasia and mental retardation

very low density lipoprotein receptor

in situ

in situ

Thickening and disruption of RPE

vldlr


Summary of the non-cloned mouse color genes and human homologues

Note: Categories and functions are mostly provisional or speculative

Current symbol

Murine Locus

Mouse
Chrom.

Human Locus
(OMIM Links)
Human Chromosome Associated Disease
(OMIM Links)
Protein Encoded Function/Effect in Pigmentation

All NCBI

Databases

  Development

Alm

anterior lenticonus with microphthalmia (Alm)

?

? ? ? ? Eye, coat others
ao

Apampischo

?

? ? ? ? Hair loss then regrowth of darker, sparser hair
baln2

balance 2 (baln2)

?

? ? ? ? Eye, coat, skeletal
baw

Black and white

18

? ? ? ? White ventrum, scattered white hairs dorsally
Bswt

belly spot with white toes (Bswt)

1

? ? ? ? belly spot with white hind toes
bt2

belted 2 (bt2)

?

? ? ? ? White belt
Crm

cream

X

? ? ? ? Males and homozygous females show a pale yellow tinge, while heterozygous females show yellow patches. Yellow coat color present in albino genetic background, thus probably not related to melanocytes
crsp

cryptorchidism with white spotting (crsp)

5

? ? ? ? Coat and skin pigment, male reproductive system
cw

Curly whiskers

9

? ? ? ? CBA mice go darker (some lymphoma)
dds

dorsal dark stripe (dds)

15

? ? ? ? Dorsal pigment dorsal dark stripe
dkd

darkened dorsal

2

? ? ? ? Dorsal pigment, dorsal dark stripe
Dwh

Dispersed white hair

2

? ? ? ? White hairs and patches throughout coat
Ednrbm1

endothelin receptor type B modifier 1 (QTL)

10

? ? ? ? Modifies extent of spotting with Ednrbs
Exma

exencephaly and severe microphthalmia/anophthalmia

X

? ? ? ? Patchy coat pigmentation, microphthalmia
fc

flecking (fc)

2

? ? ? ? Head and belly spot
Fk

Fleck (Fk)

?

? ? ? ? White on belly, tail and feet
gand

gandalf

?

? ? ? ? Diluted coat (ataxia etc, delayed lethal)
Gn

gentoo

10

? ? ? ? Belly spot, head spot
Gsfali029

gsf abnormal limbs mutant 029

?

? ? ? ? Belly spot, polydactyly
Gsfali19

gsf abnormal limbs mutant 019

?

? ? ? ? Belly spot, polydactyly
Gsfali20

gsf abnormal limbs mutant 020

?

? ? ? ? Belly spot, polydactyly
Gsfdcc2

gsf dark coat colour 2

?

? ? ? ? Belly spot, darker coat
Gsfkta19

gsf kinked tail 19

?

? ? ? ? Belly spot, kinked tail
Gsfsco6

gsf spotted coat 6

?

? ? ? ? Small head blaze
Gsfsco7

gsf spotted coat 7

?

? ? ? ? Distal depigmentation, belly spot, white vibrissae
Gsfund3

gsf undefined 3

?

? ? ? ? White ring around tail
Gsfwbs011

gsf white belly spot 011

?

? ? ? ? Belly spot
Gsfwbs1

gsf white belly spot 1

?

? ? ? ? Large belly spot, mice smaller and lighter than wild-type, males with kinked tail
Gsfwbs3

gsf white belly spot 3

?

? ? ? ? Large belly spot
Gsfwbs5

gsf white belly spot 5

?

? ? ? ? Large white belly spot
Gsfwbs9

gsf white belly spot 9

?

? ? ? ? White belly spot
Gsfwnw

gsf white nose and whiskers

?

? ? ? ? White nose and vibrissae
Gsfwt

gsf white tail

?

? ? ? ? White tail
Hpt

hair patches

4

? ? ? ? Hair patchy and skin has patches of pigment. Also cardiovascular defects etc.
hs

head spot (hs)

?

? ? ? ? Head spot
Idc

iris dysplasia with cataract

?

? ? ? ? Eye abnormalities, microphthalmia, belly spot
Mtu

Montu

12

? ? ? ? Fewer neural crest cells. Belly spot, curly tail.
Mwfh

modifier of white forelock hypopigmentation

10

? ? ? ? Modifies phenotype of Sox10Dom
Pbdl

piebald-like

?

? ? ? ? Spotting, progressive dilution, megacolon
Ph

Patch deletion region (Ph)

5

? ? ? ? Spotting gene. Not Pdgfra
pwk

patchwork (pwk)

Click to see mouse pictures of pwk alleles (1)

10

? ? ? ? Autocrine growth
rg

rotating (rg)

?

? ? ? ? Ear development, neural, sometimes belly spot
Rgsc58

RIKEN Genomic Sciences Center (GSC), 58

?

? ? ? ? White hairs, spots or band in dorsal lumbar region, varying with genetic background
Rgsc117

RIKEN Genomic Sciences Center (GSC), 117

?

? ? ? ? Belly spot, domed skull, dominant (not all mice)
Rgsc257

RIKEN Genomic Sciences Center (GSC), 257

?

? ? ? ? Scattered white hairs dorsally
Rgsc269

RIKEN Genomic Sciences Center (GSC), 269

?

? ? ? ? White digits and tail tip, some white patches on belly
Rgsc288

RIKEN Genomic Sciences Center (GSC), 288

?

? ? ? ? Patches of paler fur
Rgsc394

RIKEN Genomic Sciences Center (GSC), 394

?

? ? ? ? Variable white digits and tail tip
Rgsc398

RIKEN Genomic Sciences Center (GSC), 398

?

? ? ? ? Variable white digits and tail tip
Rgsc444

RIKEN Genomic Sciences Center (GSC), 444

?

? ? ? ? Variable number of white spots on tail
Rgsc510

RIKEN Genomic Sciences Center (GSC), 510

?

? ? ? ? Variable white digits and tail tip
Rgsc662

RIKEN Genomic Sciences Center (GSC), 662

?

? ? ? ? Abnormal digit pigmentation and white tail tip
Rgsc713

RIKEN Genomic Sciences Center (GSC), 713

?

? ? ? ? White distal feet and tail tip, sometimes belly spot
Rgsc755

RIKEN Genomic Sciences Center (GSC), 755

?

? ? ? ? White toe tips and tail tip
Rgsc767

RIKEN Genomic Sciences Center (GSC), 767

?

? ? ? ? White toe tips and tail tip
Rgsc990

RIKEN Genomic Sciences Center (GSC), 990

?

? ? ? ? White toe tips and tail tip
Rgsc1246

RIKEN Genomic Sciences Center (GSC), 1246

?

? ? ? ? Coat dilution especially ventrally; some white spotting
Rgsc1461

RIKEN Genomic Sciences Center (GSC), 1461

?

? ? ? ? White belly spot, skeletal changes
Rgsc1513

RIKEN Genomic Sciences Center (GSC), 1513

?

? ? ? ? Dilution dorsally, gray fur ventrally (even in A/-), some belly spotting
Rgsc1520

RIKEN Genomic Sciences Center (GSC), 1520

?

? ? ? ? White digits, tail tip, belly spot
Rgsc1545

RIKEN Genomic Sciences Center (GSC), 1545

?

? ? ? ? Belly spot
Rgsc1554

RIKEN Genomic Sciences Center (GSC), 1554

?

? ? ? ? Belly spot
Rgsc1658

RIKEN Genomic Sciences Center (GSC), 1658

?

? ? ? ? Scattered white hairs, some color dilution
Rgsc1742

RIKEN Genomic Sciences Center (GSC), 1742

?

? ? ? ? Belly spot
Rgsc1843

RIKEN Genomic Sciences Center (GSC), 1843

?

? ? ? ? Variable scattered white spots in females
Rgsc1855

RIKEN Genomic Sciences Center (GSC), 1855

?

? ? ? ? Belly spot
rn

roan (rn)

14

? ? ? ? micro-spotting, whole coat
rs

recessive spotting (rs)

5

? ? ? ? Melanocyte numbers. Interacts with Kit
rslk

recessive spotting-like

5

? ? ? ? Grey coat, head and/or belly spot, white spots
Shmu

shamu

9

? ? ? ? White feet, belly spot, head spot
Ska7

skeletal/axial 7

(big toe, Skam07Jus, the claw)

?

? ? ? ? Large belly spot and skeletal defects
Skc42

skin/coat color 42

(Skcm42Jus)

?

? ? ? ? Sharply delineated white belly
Skc43

skin/coat color 43

(Skcm43Jus)

2

? ? ? ? White belly patch and tail
skc44

skin/coat color 44

(Skcm44Jus)

?

? ? ? ? White belt, sometimes spotting
Sls

semidominant lethal spotting

2

? ? ? ? Semidominant spotting. May be allelic to Edn3
smk

smoky (smk)

?

? ? ? ? Grey coat on a/a, with reproductive system defects
stn

stunted

19

? ? ? ? Belly spot, altered facial skeleton
Stol

stripy oily

X

? ? ? ? stripy in heterozygote, dark in homo- and hemizygote. Oily hair. Microphthalmia
Strx2

striated, X-linked 2

X

? ? ? ? striped fur, thick skin in +/-, lethal in -/Y
Strx3

striated, X-linked 3

X

? ? ? ? striped fur, thick skin in +/-, lethal in -/Y
Strx4

striated, X-linked 4

X

? ? ? ? striped fur, thick skin in +/-, lethal in -/Y
Tcm

total cataract with microphthalmia

4

? ? ? ? Microphthalmia, abnormal iris, lens, retina
tga

transposition of the great arteries

4

? ? ? ? Ectopic pigmentation in heart and thoracic cavity
tmgc17

Tennessee Mouse Genome Consortium 17

X

? ? ? ? Belly spot, syndactyly
Tmgc19

Tennessee Mouse Genome Consortium 19

?

? ? ? ? Belly spot, other spotting, postnatal dominant lethal
Tmgc21

Tennessee Mouse Genome Consortium 21

?

? ? ? ? Belly spot, other spotting, white feet
tp

taupe (tp)

7

? ? ? ? pigment color, female reproductive system
Ts

tail-short

11

? ? ? ? Belly spot, white distal forelimbs. Deficiencies of skeleton, blood, growth etc.
vs

variable spotting (vs)

9

? ? ? ? Spotting of belly & head, white feet & tail
Vss

variable spot and size

2

? ? ? ? Variable belly spot, small size
Wbct

white belly, claws and tail

1

? ? ? ? Variable spotting of belly feet, tail
Whto

White toes (Whto)

7

? ? ? ? color, digit development
wn

white nose (wn)

15

? ? ? ? White nose, ventral streak
Wtgr

wavy tiger

X

? ? ? ? Coat striped and wavy; reproductive defects
Xls

X-linked stripe

X

? ? ? ? Coat striping, 1 white spot on left flank
Xs

extra toes spotting (Xs)

7

? ? ? ? color, digit development
Xsl

extra-toes spotting-like

7

? ? ? ? Extra toes, belly spot

  Melanocyte function only

brwd

brownoid (brwd)

?

? ? ? ? Melanin color (brown)
Cal7

Caracul-like 7

15

? ? ? ? Pale skin and eyes
Crm

cream

X

? ? ? ? Pale yellow coat color
dj

dilution Japan

?

? ? ? ? Pink skin, grey coat (a/a)
dp

dilution-Peru (dp)

15

? ? ? ? pale coat
Plto

platino (plto)

?

? ? ? ? Strong
coat dilution
powder

powder

?

? ? ? ? Pale coat
Rgsc1820

RIKEN Genomic Sciences Center (GSC), 1820

?

? ? ? ? No pigment, albino
Rgsc1904

RIKEN Genomic Sciences Center (GSC), 1904

?

? ? ? ? Coat color dilution
ru2l

ruby-eye 2-like

7

? ? ? ? Like ru2. Grey coat, pale skin, red eyes
sea

sepia

1

? ? ? ? coat color dilution
skc14

skin/coat color 14

(pale coat m6)

?

? ? ? ? Pale coat
skc19

skin/coat color 19

(dilute m2Jus)

?

? ? ? ? Pale coat
skc21

skin/coat color 21

(quicksilver)

?

? ? ? ? Pale coat when young; white guard hairs
skc22

skin/coat color 22

(ruby eye m1Jus)

?

? ? ? ? Pale coat when young; white guard hairs, red eyes
skc23

skin/coat color 23

(ruby eye m2Jus)

?

? ? ? ? Pale coat when young; dark red eyes
skc28

skin/coat color 28

(silver m1)

?

? ? ? ? Silver coat
skc29

skin/coat color 29

(silver m2)

?

? ? ? ? Silver coat
skc30

skin/coat color 30

(silverback)

?

? ? ? ? Coat silvering, melanocyte death
skc31

skin/coat color 31

(silverback2)

?

? ? ? ? Coat silvering, melanocyte death
Skc36

skin/coat color 36

(mottled, Skcm36Jus)

?

? ? ? ? Mottled coat in female
titanm

titanium

?

? ? ? ? Pale coat
tmgc14

Tennessee Mouse Genome Consortium 14

?

? ? ? ? Diluted coat
Tmgc18

Tennessee Mouse Genome Consortium 18

?

? ? ? ? Diluted coat, dominant
uwl

underwhite-like

15

? ? ? ? Ruby-eyed cream. Possible uw (Slc45a2) allele

  Eumelanin and Pheomelanin

Color difference (QTL)

15

? ? ? ? Modifies yellow coat color
da

dark (da)

7

? ? ? ? pheomelanin deficient (extinct?)
dal

dark-like

7

? ? ? ? like dark
Dense incisors

16

? ? ? ? Loss of pheomelanin – white belly on A. Loss yellow on ears
Darker modification of yellow agouti QTL 1

1

? ? ? ? Darkening of yellow and agouti coats
Darker modification of yellow agouti QTL 2

1

? ? ? ? Darkening of yellow and agouti coats
Darker modification of yellow agouti QTL 3

15

? ? ? ? Darkening of yellow and agouti coats
gdn

golden (gdn)

?

? ? ? ? eumelanin deficient
gr

grizzled (gr)

10

? ? ? ? Pheomelanin deficient, tail
gri

grey intense (gri)

11

? ? ? ? Pheomelanin deficient
gt

gray tremor (gt), probably extinct

15

? ? ? ? Pheomelanin deficient; spotting, neurological
Och

Ochre (Och)

4

? ? ? ? Eumelanin. balance, other
pheomelanin (QTL)

15

? ? ? ? Modifies color of Ay/- mice. More eumelanic allele dominant
reduced pheomelanin 8 (Reph8)

?

? ? ? ? Agouti mice darker, reduced pheomelanin
skc17

skin/coat color 17

(dark back 2)

?

? ? ? ? Dark back
U

Umbrous (U)

?

? ? ? ? pheomelanin deficient
Up

Umbrous-patterned (Up)

?

? ? ? ? pheomelanin deficient (patchy)
Ym

Yellow mottled (Ym)

X

? ? ? ? Yellow mottling, hemizygous lethal
yellow value (QTL)

15

? ? ? ? Modifier of eumelanin-pheomelanin ratio

  Organelle biogenesis or transport

dill

Dilute-like

?

? ? ? ? Like dilute
rgsc80

RIKEN Genomic Sciences Center (GSC), 80

?

? ? ? ? Diluted coat, interacts with Myo5ad
skc6

skin/coat color 6

?

? ? ? ? Pale coat, lysosomal storage defect, long hair
skc9

skin/coat color 9

(pale coat m1)

?

? ? ? ? Pale coat, lysosomal storage defect
skc10

skin/coat color 10

(pale coat m2)

?

? ? ? ? Pale coat, lysosomal storage defect
skc12

skin/coat color 12

(pale coat m4)

?

? ? ? ? Pale coat, lysosomal storage defect
skc15

skin/coat color 15

(pale tail)

?

? ? ? ? Pale skin

  Dark skin

Dfp

dark foot pads (Dfp)

?

? ? ? ? Skin color
Dfp2

dark foot pads 2 (Dfp2)

4

? ? ? ? Heterozygotes have black foot pads
Dsk6

Dark skin 6 (Dsk6)

3

? ? ? ? Skin Color
Dsk8

Dark skin 8 (Dsk8)

3

? ? ? ? Skin Color
Dsk9

Dark skin 9 (Dsk9)

11

? ? ? ? Skin Color
Rgsc45

RIKEN Genomic Sciences Center (GSC), 45

?

? ? ? ? Grey-pigmented footpads with thickened epidermis
Rgsc63

RIKEN Genomic Sciences Center (GSC), 63

?

? ? ? ? Slightly dark hind footpads
Rgsc150

RIKEN Genomic Sciences Center (GSC), 150

?

? ? ? ? Dark footpads
Rgsc183

RIKEN Genomic Sciences Center (GSC), 183

?

? ? ? ? Dark footpads
Rgsc194

RIKEN Genomic Sciences Center (GSC), 194

?

? ? ? ? Slightly dark footpads
Rgsc207

RIKEN Genomic Sciences Center (GSC), 207

?

? ? ? ? Pigmented dermatoglyphs of footpads
Rgsc372

RIKEN Genomic Sciences Center (GSC), 372

?

? ? ? ? Dark footpads
Rgsc515

RIKEN Genomic Sciences Center (GSC), 515

?

? ? ? ? Dark footpads
Rgsc526

RIKEN Genomic Sciences Center (GSC), 526

?

? ? ? ? Dark footpads
Rgsc715

RIKEN Genomic Sciences Center (GSC), 715

?

? ? ? ? Slightly dark footpads
Skc39

skin/coat color 39

(Skcm39Jus)

7

? ? ? ? Dark skin (footpads)
Skc41

skin/coat color 41

(blackfoot 1, Skcm41Jus)

?

? ? ? ? Hyperpigmentation
soo

sooty foot (soo)

2

? ? ? ? Skin Color

  Unknown

Dlp1

Dominant lightened pigment 1

?

? ? ? ? Lighter, sometimes slight belly spot
Dlp2

Dominant lightened pigment 2

?

? ? ? ? Lighter
Dlp3

Dominant lightened pigment 3

?

? ? ? ? Much Lighter
fe

faded (fe)

Click to see mouse pictures of pwk alleles (1)

6

? ? ? ? Progressive coat fading, skin lesions
fnld

faint lined (fnld)

X

? ? ? ? Hemizygous lethal. Fine dorsal striping
Fw

Fawn (Fn)

?

? ? ? ? Lightens Rn mutant mice
ge

greige (ge)

1

? ? ? ? Paler coat and skin in dilute, brown mice
Gsfbcc2

gsf bright coat colour 2

?

? ? ? ? Complex coat color variation
lgr

London grey (lgr)

?

? ? ? ? Grey coat, later patchy, systemic effects
Lgt

light (lgt)

?

? ? ? ? Light coat (dominant), light skin (recessive)
Li

Lined (Li)

X

? ? ? ? Hemizygous lethal. Fine striping, Deletion that includes Rsk2
Mch

Modifier of chinchilla (Mch)

?

? ? ? ? Tyr-c-ch mice look browner
Mchm1

Modifier of chinchilla-mottled 1 (Mchm1)

?

? ? ? ? Lightens Tyr-c-m mice
Mchm2

Modifier of chinchilla-mottled 1 (Mchm2)

?

? ? ? ? Lightens Tyr-c-m mice
Mfs

mutant fur is striped

13

? ? ? ? “Striped fur”
nmf192

neuroscience mutagenesis facility, 192

?

? ? ? ? Spotted or mottled retinae
nur15

neurological 15

(dilute ataxic)

?

? ? ? ? Diluted coat (and neural effects, early lethal)
nur16

neurological 16

(dilute ataxic 2)

?

? ? ? ? Diluted coat (and neural effects, early lethal)
Rd4

retinal degeneration 4

4

? ? ? ? Eye defects include pigmented spots in the fundus
Rd9

retinal degeneration 9

X

? ? ? ? Retina mottled and degenerates
rdp

reduced pigment
(not same as rp/Bloc1s3)

?

? ? ? ? Marked pigment dilution, red eyes
Rgsc71

RIKEN Genomic Sciences Center (GSC), 71

?

? ? ? ? Dilution dorsally (dominant), grey belly, sometimes belly spot
Rgsc212

RIKEN Genomic Sciences Center (GSC), 212

?

? ? ? ? Black rostrally and brown caudally of a mid-trunk demarcation line
Rgsc547

RIKEN Genomic Sciences Center (GSC), 547

?

? ? ? ? Patch of brown fur between the eyes, by 8 weeks old
Rgsc796

RIKEN Genomic Sciences Center (GSC), 796

?

? ? ? ? Slight coat dilution (dominant) and behavioral changes
skc18

skin/coat color 18

(dilute m1Jus)

?

? ? ? ? Abnormal coat color, small size
Skc45

skin/coat color 45

(dusty, Skcm45Jus)

?

? ? ? ? “Shading of coat in animals expected to be white”
Sta

Autosomal striping (Sta)

X

? ? ? ? Striping in both sexes
Sta2

striping, autosomal 2

?

? ? ? ? striped coat
Sta3

striping, autosomal 3

?

? ? ? ? striped coat
Strg

Striped greasy (Strg)

X

? ? ? ? Hair texture and color
tmgc22

Tennessee Mouse Genome Consortium 22

7

? ? ? ? Abnormal RPE, choroid
tmgc23

Tennessee Mouse Genome Consortium 23

7

? ? ? ? RPE hyperpigmented around optic disk
tmgc25

Tennessee Mouse Genome Consortium 25

7

? ? ? ? Abnormal RPE, hypopigmented fundus
tmgc29

Tennessee Mouse Genome Consortium 29

7

? ? ? ? Like tmgc25
wuf

white underfur (wuf)

?

? ? ? ? Underfur white (Extinct?)
Xmo2

X-linked mottled 2

X

? ? ? ? Mottled coat. Hemizygous lethal
Xmo3

X-linked mottled 3

X

? ? ? ? Mottled coat. Hemizygous lethal
Xmo4

X-linked mottled 4

X

? ? ? ? Mottled coat. Hemizygous lethal
Xmo5

X-linked mottled 5

X

? ? ? ? Mottled coat. Hemizygous lethal
Xmo6

X-linked mottled 6

X

? ? ? ? Mottled coat. Hemizygous lethal

View this table without pop-up windows (linked external pages open in the same window of the browser)


Thanks to Vince Hearing (N.I.H.) and to Robert Kelsh (Univ. Bath, UK) for their help on this table. Logo mouse image by  Bill Pavan (N.I.H.). Information from the following publication was used in this table: Bennett DC and Lamoreux ML, The Color Loci of Mice - A Genetic Century. Pigment Cell Res 16:333-344, 2003.

 

Thanks to Friedrich Beermann, Clement Chow, Lidia Kos, Lynn Lamoreux, Lluis Montoliu, Jean-Jacques Panthier and Andrew Ward for contributing and sharing their mouse pictures included in this WEB site. We kindly ask you to acknowledge the source of the mouse picture, if you use it elsewhere, by citing its author and/or publication (if available), as detailed in these WEB pages.

 

If you reference this web page in a publication, please use the following citation:

Montoliu L, Oetting WS, Bennett DC. Color Genes. (Month, year). European Society for Pigment Cell Research. World Wide Web (URL: http://www.espcr.org/micemut)

 

Additional information can be found in the following books:

The Colors of Mice: A Model Genetic Network (2010). M. Lynn Lamoreux, Véronique Delmas, Lionel Larue and Dorothy Bennett, Wiley-Blackwell.

The Coat Colors of Mice: A Model for Mammalian Gene Action and Interaction (1979). Willys K. Silvers, Springer-Verlag.

 

This WEB page was created and maintained by Bill Oetting up to April 2006 at the IFPCS WEB page. Here you can access the last version of the former WEB page.

 

This WEB page is now maintained by Lluis Montoliu (CNB-CSIC, Madrid, Spain) and Dorothy C. Bennett (St. George's, University of London, UK) within the ESPCR WEB page.

 

Please, send us any suggestion, correction, question or comment to micemut@espcr.org. Thanks for your collaboration!


Last modified on October 2, 2011


Copyright 2011, European Society for Pigment Cell Research & International Federation of Pigment Cell Societies