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 321 loci described in this table (155 cloned genes and 166 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 non-cloned color genes
Last modified on June 5, 2009
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
. 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
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 84 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
|
Mouse
|
Human Locus |
Human Chromosome
|
Associated Disease
|
Protein Encoded
|
Function in Pigmentation
|
All NCBI Databases
|
Zebrafish locus
|
Development |
|||||||||
| Adam17 |
Adam17 |
|
|
|
Unknown |
a disintegrin and metalloproteinase domain 17 |
Protease, processing various surface proteins |
|
|
| Adamts20 |
belted (bt)
|
|
|
Unknown |
A disintegrin and metalloprotease domain (reprolysin type) with thrombospondin type 1 motif, 20 |
Metalloprotease. Melanoblast migration? |
|
Unknown
|
|
| Apc |
Adenomatous polyposis coli, allele tm2Rak |
|
|
|
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 |
prenatal dorsal dark stripe and head patch |
|
||
| Bmpr1a |
Bone morphogenetic protein receptor, type 1A, allele tm1Bh |
|
|
Bone morphogenetic protein receptor, type 1A |
Abnormal prenatal RPE with discontinuity in pigmentation |
|
|||
| Bmpr1b |
Bone morphogenetic protein receptor, type 1B, allele tm1Kml |
|
|
Bone morphogenetic protein receptor, type 1B |
Abnormal prenatal RPE with discontinuity in pigmentation |
|
|||
| Brca1 |
Brca1 |
|
|
Breast/ovarian cancer |
Tumor suppressor |
Development of various organs |
|
Unknown |
|
| Dock7 |
dedicator of cytokinesis 7; misty (m), moonlight (mnlt) |
|
DOCK7 |
|
Unknown |
Dedicator of cytokinesis protein 7, widely expressed Rho family guanine nucleotide exchange factor |
generalized hypopigmentation and localized white-spotting in mice, with a lack of pigment on the belly, tail tip, and paws |
|
|
| Ece1 |
Endothelin converting enzyme 1, allele tm1Reh |
|
|
Unknown |
Endothelin converting enzyme 1 |
No melanocytes in uvea, dorsal skin at birth (perinatal lethal) |
|
Unknown |
|
| Edn3 |
lethal spotting (ls) |
|
|
endothelin 3 |
melanocyte development |
|
Unknown |
||
| Ednrb |
piebald spotting (s)
|
|
|
endothelin receptor B |
melanoblast differentiation |
|
|||
| Egfr |
dark skin 5 (dsk5) |
|
|
Unknown |
epidermal growth factor receptor |
Growth factor receptor |
|
||
| En1 |
Engrailed 1 |
|
|
Unknown |
Homeobox protein engrailed-1 |
Hyperpigmentation of digits (polydactyly etc) |
|
||
| Fgfr2 |
Fgfr2 |
|
|
Fibroblast growth factor receptor 2 |
Growth factor receptor |
|
|||
| Fkbp8 |
FK506 binding protein 8, allele tm1Tili |
|
|
Unknown |
FK506 binding protein 8 |
Microphthalmia/ anophthalmia |
|
||
| Foxn1 |
forkhead box N1, allele tw (traveling wave) |
|
|
Unknown |
forkhead box protein N1 |
Hairless. Waves of dark/light travel slowly over skin (possible normal hair cycle + very short hairs) |
|
||
| Frem2 |
Fras1 related extracellular matrix protein 2 allele my-F11 |
|
|
Fras1 related extracellular matrix protein 2 |
Microphthalmia/ anophthalmia, patches of discolored or white fur |
|
Unknown |
||
| Fzd4 |
frizzled homolog 4 (Drosophila), allele tm1Nat |
|
|
7-transmembrane domain protein that is receptor for Wnt signaling proteins |
Many abnormalities including light or silvered coat |
|
|||
| Gas1 |
growth arrest specific 1, allele tm1Fan |
|
|
growth arrest specific 1 |
RPE transdifferentiates to neural retina |
|
|||
| Gata3 |
GATA binding protein 3, allele tm3Gsv |
|
|
hypoparathyroidism, sensorineural deafness, and renal disease (HDR) syndrome, Barakat syndrome |
GATA binding protein 3, transcription factor |
Extra stem-like cells in hair follicles; abnormal hair, irregular pigment deposition |
|
||
| Gnaq |
dark skin 1 (dsk1) |
|
|
Diminished platelet aggregation |
Guanine nucleotide binding protein subunit Gaq |
GPCR signalling: limits melanocyte proliferation |
|
Unknown |
|
| Gna11 |
dark skin 7 (dsk7) |
|
|
Unknown |
Guanine nucleotide binding protein subunit Ga11 |
GPCR signalling: limits melanocyte proliferation |
|
||
| Gnpat |
glyceronephosphate O-acyltransferase, allele tm1Just |
|
|
glyceronephosphate O-acyltransferase |
Abnormal RPE morphology, microphthalmia |
|
|||
| Gpc3 |
glypican 3, allele tm1Arge |
|
|
glypican 3 |
dominant distal and belly spotting |
|
|||
| Gpr161 |
G protein-coupled receptor 161 vacuolated lens (vl) |
|
GPR161 |
|
Unknown |
G protein-coupled receptor 161, G-protein coupled receptor RE2 |
Vacuolated lens, occasional belly spot, spine development |
|
Unknown |
| Grlf1 |
glucocorticoid receptor DNA binding factor 1 (p190 RhoGAP) |
|
|
Unknown |
glucocorticoid receptor DNA binding factor 1 |
RPE hyperplasia, microphthalmia |
|
Unknown |
|
| Hells |
helicase, lymphoid specific |
|
|
Unknown |
helicase, lymphoid specific |
Early ageing includes graying by 15d old |
|
||
| Itgb1 |
integrin beta 1, allele tm1Ref |
|
|
Unknown |
integrin beta 1 (fibronectin receptor beta) |
transient patchy hypopigmentation, crest migration defect, fibronectin receptor beta |
|
||
| Jmjd6 |
Jumonji domain containing 6, allele tm1Gbf |
|
|
Unknown |
Jumonji domain containing 6 |
Lack of one/both eyes, ectopic RPE in nose |
|
||
| Kit |
dominant white-spotting (W)
|
|
|
Receptor for SCF |
Melanoblast proliferation survival, homing |
|
|||
| Kitl |
steel (Sl) |
|
|
Unknown |
Stem cell factor (SCF) |
Melanoblast proliferation survival, homing |
|
||
| Krt1 |
dark skin 12 (dsk12) |
|
|
keratin 1 |
Primary action in keratinocytes. Limits melanization |
|
|||
| Krt17 |
keratin 17, allele tm1Cou |
|
|
keratin 17 |
abnormal hairs with clustered melanin granules |
|
|||
| Krt2 |
keratin 2-17, dark skin 2 (dsk2) |
|
|
keratin complex 2, basic, gene 17 |
Keratin |
|
Unknown |
||
| Krt4 |
keratin 4 |
|
|
keratin 4 |
“bright” diluted coat color |
|
|||
| Krt75 | keratin 75, allele tm1Der |
|
|
Unknown |
keratin 75 |
hair defects with variable pigment clumping |
|
Unknown |
|
| Lef1 |
lymphoid enhancer binding factor 1, allele tm1Rug |
|
|
lymphoid enhancer binding factor 1, Mutations result in impaired binding to beta-catenin |
transcription factor, underdeveloped hair follicles lacking melanin. (Wnt, beta-catenin pathway) |
|
|||
| Lmx1a |
LIM homeobox transcription factor 1 alpha, dreher (dr) |
|
|
Unknown |
LIM homeodomain protein 1 |
transcription factor |
|
Unknown |
|
| Mab21l2 |
Mab-21-like 2 (C. elegans), allele tm1Nao |
|
|
Unknown |
Mab-21-like 2 homolog (C. elegans) |
lack of RPE by time of embryonic lethality |
|
||
| Mbtps1 |
membrane-bound transcription factor peptidase, site 1, allele wrt |
|
|
Unknown |
membrane-bound transcription factor peptidase, site 1 |
Diluted hair with white base (melanocyte death?) |
|
||
| Mcoln3 |
varitint-waddler (Va) |
|
|
Unknown |
mucolipin 3 |
Cation channel ion homeostasis? |
|
Unknown |
|
| Med1 |
mediator complex subunit 1, (Peroxisome proliferator-activated receptor-binding protein, Pparbp) |
|
|
Unknown |
Mediator of RNA polymerase II transcription subunit 1, (Peroxisome proliferator-activated receptor-binding protein, Pparbp) (Thyroid hormone receptor- associated protein complex 220 kDa component, Trap220) |
Low retinal pigmentation (before embryonic lethality) |
|
Unknown |
|
| Mitf |
microphthalmia (mi)
|
|
|
transcription factor |
melanocyte differentiation |
|
|||
| Mpzl3 |
myelin protein zero-like 3 (allele rough coat, rc) |
|
|
Unknown |
myelin protein zero-like 3 |
Hair follicle loss, black pigment changes to light brown |
|
||
| Myc |
myelocytomatosis oncogene (when KO targeted by Wnt1 promoter-Cre) |
|
|
Unknown |
myelocytomatosis oncogene, Myc proto-oncogene protein (c-myc) |
Pigmentary spotting, not head |
|
||
| Ndph |
Norrie disease homolog (allele tm1Wbrg) |
|
|
pseudoglioma |
Norrin |
Many defects including hyperpigmentation of RPE and overgrowth of strial melanocytes |
|
||
| Nf1 |
neurofibromatosis 1 |
|
|
Neurofibromin 1 |
Small, unpigmented eyes –
microphthalmia (Ras pathway) |
|
|||
| Notch1 |
Notch gene homolog 1 (Drosophila) |
|
|
Unknown |
Notch gene homolog 1 |
Scattered grey hairs, when KO targetted to melanocytes (Tyr-Cre) |
|
||
| Notch2 |
Notch gene homolog 2 (Drosophila) |
|
|
Notch gene homolog 2 |
Scattered grey hairs, when KO targetted to melanocytes (Tyr-Cre). All grey with Notch1 KO, eventually white |
|
|||
| Nr2e1 |
nuclear receptor subfamily 2, group E, member 1 (allele fierce, frc) |
|
|
Unknown |
nuclear receptor subfamily 2, group E, member 1 |
Brain and eye defects. Asymmetrical and mottled RPE |
|
||
| Ntrk1 |
neurotrophic tyrosine kinase, receptor, type 1 (TrkA) |
|
|
neurotrophic tyrosine kinase, receptor type 1 |
Mottled coat (also neural defects, skin lesions) |
|
|||
| Otx2 |
orthodenticle homolog 2 (Drosophila) |
|
|
orthodenticle homolog 2 |
Many effects including RPE hyperplasia |
|
|||
| Pax2 |
paired box gene 2 |
|
|
Unknown |
PAX-2 transcription factor |
Many effects including RPE cells extending into optic nerve |
|
||
| Pax3 |
splotch (Sp) |
|
|
PAX-3 transcription factor |
neural tube development |
|
|||
| Pax6 |
paired box gene 6 (small eye, Sey) |
|
|
Other eye disorders |
PAX-6 transcription factor |
Eye abnormalities can include reduced RPE, also distal/ventral white spotting |
|
||
| Pcbd1 |
pterin 4 alpha carbinolamine dehydratase/ dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 1 |
|
|
pterin 4 alpha carbinolamine dehydratase/ dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 1 |
Mild hypopigmentation, belly spot, mild microphthalmia |
|
|||
| Pdgfb |
platelet derived growth factor, B polypeptide |
|
|
platelet derived growth factor, B polypeptide |
Cardiovascular and eye defects include abnormal RPE, microphthalmia |
|
|||
| Pdgfc |
platelet derived growth factor, C polypeptide |
|
|
Unknown |
platelet derived growth factor, C polypeptide |
Depigmented spots in the retina |
|
||
| Phactr4 |
phosphatase and actin regulator 4, allele humpty dumpty |
|
|
Unknown |
phosphatase and actin regulator 4 |
Neuroblast overgrowth; outgrowths in RPE |
|
||
| Pitx3 |
paired-like homeodomain transcription factor 3 (aphakia, ak) |
|
|
paired-like/Pituitary homeodomain transcription factor 3 |
Eye abnormalities including hyperpigmentation around embryonic pupil |
|
|||
| Pygo1 |
pygopus 1, homolog (Drosophila) |
|
|
Unknown |
pygopus 1, homolog (Drosophila) |
eye and other defects including folded RPE |
|
Unknown |
|
| Rb1 |
Retinoblastoma 1 (targeted) |
|
|
Retinoblastoma 1 |
melanocyte over-proliferation in culture |
|
|||
| Rs1 |
retinoschisis (X-linked, juvenile) 1 (human), allele tmgc1 |
|
|
retinoschisis (X-linked, juvenile) 1 |
small patches of depigmentation in RPE |
|
|||
| S1pr2 |
sphingosine-1-phosphate receptor 2 (Edg5), allele tm1Rlp |
|
|
Unknown |
sphingosine-1-phosphate receptor 2 |
Inner ear abnormalities include hyper-pigmentation of stria vascularis |
|
||
| Sema3c |
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C |
|
|
Unknown |
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C |
Some skin hypopigmentation, ectopic pigment in internal organs |
|
||
| Sema4a |
sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A |
|
|
sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A |
Abnormal RPE, postnatal depigmentation of eye |
|
Unknown |
||
| Sfxn1 |
flexed tail (f) |
|
SFXN1 |
|
Unknown |
sideroflexin 1 Note: there is an alternative identification of f as Smad5 |
Tricarboxylate carrier protein (TCC) |
|
|
| Snai2 |
snail homolog 2 (Drosophila) |
|
|
Neural crest transcription factor |
Transcription factor |
|
|||
| Sox10 |
Dominant megacolon (Dom)
|
|
|
SRY-box containing gene 10 |
transcriptional activator |
|
|||
| Sufu |
suppressor of fused homolog (Drosophila) |
|
|
suppressor of fused homolog (Drosophila) |
CNS, dark hair, basal cell lesions on skin (Hh pathway suppressor) |
|
|||
| Tbx10 |
T-box 10 (Dc, dancer) |
|
|
Unknown |
T-box 10 |
transcription factor, Head pigment, ear, palate, neural |
|
Unknown |
|
| Tbx15 |
T-box 15 (de, droopy ear) |
|
|
T-box 15 |
Ear shape; skeletal, altered dorsoventral color pattern with At, ae |
|
|||
| Tcfap2a |
transcription factor AP-2, alpha |
|
|
Unknown |
Transcription factor |
Mouse knock-out produces coat color defects |
|
||
| Timp3 |
tissue inhibitor of metalloproteinase 3 |
|
|
tissue inhibitor of metalloproteinase 3 |
Abnormal RPE morphology |
|
|||
| Traf6 |
Tnf receptor-associated factor 6 |
|
|
Tnf receptor-associated factor 6 |
Many effects including pale skin, few/delayed hair follicles. Postnatal lethal |
|
|||
| Tub |
tubby candidate gene |
|
|
Unknown |
tubby candidate gene |
Obese; eye and ear abnormalities; degeneration and loss of RPE. |
|
||
| Unc119 |
unc-119 homolog (C. elegans) |
|
|
unc-119 homolog (C. elegans) |
Retinal degeneration; mottling of RPE |
|
|||
| Vsx2 |
visual system homeobox 2 |
|
|
Unknown |
visual system homeobox 2 |
Microphthalmia, reduced eye pigmentation |
|
||
| Wnt1 |
wingless-related MMTV integration site 1 |
|
|
Unknown |
Growth factor/morphogen |
Secreted bioactive peptide |
|
||
| Wnt3a |
wingless-related MMTV integration site 3A |
|
|
Unknown |
Growth factor/morphogen |
Secreted bioactive peptide |
|
||
| Zbtb17 |
zinc finger and BTB domain containing 17 |
|
ZBTB17 |
|
Unknown |
Transcription factor: zinc finger and BTB domain containing 17 |
(Transcription factor) Darkened coat (mixed strain background); dark skin, dark dermis around hairs |
|
Unknown |
| Zfp53 |
zinc finger protein 53 |
|
Unknown |
Unknown |
Unknown |
Transcription factor: zinc finger protein 53 |
Abnormal skin pigmentation |
|
Unknown |
| Zic2 |
Kumba (Ku) |
|
|
|
Zinc finger protein of the cerebellum 2 |
neural crest formation and hindbrain patterning belly spot, curly tail |
|
||
Components of melanosomes and their precursors |
|||||||||
| Dct |
slaty (slt)
|
|
|
Unknown |
tyrosinase related protein 2 (TRP2) |
DOPAchrome tautomerase |
|
||
| Gpnmb |
iris pigment dispersion (ipd) |
|
|
Glycoprotein (transmembrane) |
Apparent melanosomal component |
|
Unknown |
||
| Si |
silver (si) |
|
|
Unknown |
gp100/silver protein, Pmel17 |
melanosomal matrix protein |
|
||
| Slc24a5 |
solute carrier family 24, member 5 |
|
|
Unknown |
solute carrier family 24, member a5 (NCKX5) |
Calcium transporter, melanosomal. (Skin, eye color) |
|
||
| Slc45a2 |
underwhite (uw) Matp |
|
|
oculocutaneous albinism type 4 (OCA4)
|
solute carrier family 45, member 2 Membrane-associated transporter protein (Matp) |
transporter |
|
||
| Tyr |
albino, color (c)
|
|
|
oculocutaneous albinism type 1 (OCA1)
|
tyrosinase |
melanogenic enzyme |
|
||
| Tyrp1 |
brown (b)
|
|
|
oculocutaneous albinism type 3 (OCA3)
|
tyrosinase related protein 1 (TRP1) |
melanosomal enzyme/stabilizing factor |
|
||
Melanosome construction / protein routing (HPS-related) |
|||||||||
| Ap3b1 |
pearl (pe) |
|
|
Hermansky Pudlak syndrome type 2
|
beta-3 subunit of adaptor protein 3 complex (AP-3) |
Organellar protein routing |
|
||
| Ap3d1 |
mocha (mh) |
|
|
Unknown |
delta subunit of adaptor protein 3 complex (AP-3) |
Organellar protein routing |
|
Unknown |
|
| Bloc1s3 |
Reduced pigmentation (rp) |
|
|
Unknown |
a component of the BLOC1 protein transport complex |
|
Unknown |
||
| Cno |
cappuccino (cno) |
|
|
Unknown |
Unknown |
Organelle biogenesis |
|
||
| Dtnbp1 |
sandy (sdy) |
|
|
Hermansky Pudlak syndrome type 7 |
dysbindin |
lysosome-related organelles complex 1 (BLOC-1) |
|
||
|
pale tremor (plt)
|
|
|
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) |
|
|
|
G-protein-coupled receptor (GPR143) |
Melanosome Biogenesis signal transduction |
|
||
| Hps1 |
pale ear (ep) |
|
|
Hermansky Pudlak syndrome type 1
|
membrane protein |
Organelle biogenesis and size |
|
Unknown |
|
| Hps3 |
cocoa (coa) |
|
|
Hermansky Pudlak Syndrome type 3
|
Unknown |
Organelle biogenesis |
|
Unknown |
|
| Hps4 |
light ear (le) |
|
|
Unknown |
Organelle biogenesis and size |
|
Unknown |
||
| Hps5 |
Ruby-eye 2 (ru2) |
|
|
|
Unknown |
biogenesis of lysosome-related organelles complex-2 |
|
Unknown |
|
| Hps6 |
Ruby-eye (ru) |
|
|
|
Unknown |
biogenesis of lysosome-related organelles complex-2 |
|
Unknown |
|
| Lyst |
beige (bg) |
|
|
|
membrane protein |
Organelle biogenesis and size |
|
||
| p |
pinkeyed-dilution (p)
|
|
|
oculocutaneous albinism type 2 (OCA2)
|
Unknown |
Melanosome biogenesis and size |
|
||
| Pldn |
pallid (pa) |
|
|
Unknown |
pallidin |
vesicle-docking and fusion |
|
Unknown |
|
| Rab38 |
chocolate (cht) |
|
|
Unknown |
Member of RAS oncogene family |
Targeting of Tyrp1 protein to the melanosome |
|
Unknown |
|
| Rabggta |
gunmetal (gm) |
|
|
Unknown |
alpha-subunit of rab geranylgeranyl transferase |
Organelle biogenesis |
|
Unknown |
|
| Trappc6a |
trafficking protein particle complex 6A |
|
|
Unknown |
trafficking protein particle complex 6A |
Pale patches in the coat and RPE |
|
Unknown |
|
| Txndc5 |
muted (mu) |
|
|
Unknown |
TXNDC5 |
Organelle biogenesis |
|
||
|
buff (bf) |
|
|
Unknown |
vacuolar protein sorting 33a |
Organellar protein routing |
|
|||
Melanosome transport |
|||||||||
| Mlph |
leaden (ln) |
|
|
Griscelli syndrome (?) |
melanophilin |
melanosome transport |
|
||
| Mreg |
dilute suppressor (dsu) |
|
|
Unknown |
whn-dependent transcript 2 (Wdt2) Melanoregulin |
Melanosome transport |
|
Unknown |
|
| Myo5a |
dilute (d) |
|
|
myosin type Va |
melanosome transport |
|
|||
| Myo7a |
shaker-1 (sh-1) |
|
|
Usher syndrome type IB |
Myosin type VIIa |
Melanosome transport in RPE |
|
||
| Rab27a |
ashen (ash) |
|
|
RAS associated protein |
melanosome transport |
|
Unknown |
||
Eumelanin and Pheomelanin |
|||||||||
| a |
nonagouti (a)
|
|
|
agouti signal protein (ASIP) |
Eumelanin / pheomelanin switch |
|
|||
| Atrn |
mahogany (mg) |
|
|
Unknown |
Attractin |
Eumelanin / pheomelanin switch (among others) |
|
Unknown |
|
| Drd2 |
Dopamine receptor 2, allele tm1mok |
|
|
Unknown |
Dopamine receptor 2 |
Agouti color darkened. POMC level raised |
|
||
| Eda |
Tabby (Ta) |
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ectodysplasin-A |
Sweat gland, tooth and hair morphogenesis |
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| Edaradd |
Ectodysplasin A receptor-associated death domain (cr, crinkled) |
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|
Unknown |
Delayed hair growth, agouti coat darker dorsally, yellower laterally |
Ectodysplasin A receptor-associated death domain |
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| Ggt1 |
Ggt1 |
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|
gamma glutamyltranspeptidase 1 |
Glutathione metabloism (pheomelanin synthesis) |
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| L1cam |
Neural cell adhesion molecule L1, allele tm1Sor |
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|
Neural cell adhesion molecule L1 |
black fur patches on agouti |
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| Mc1r |
extension (e) |
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|
Melanocortin 1 receptor |
Eumelanin / pheomelanin switch |
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| Mgrn1 |
Mahoganoid (md) |
|
|
Unknown |
Mahogounin, ring finger 1 E3 ubiquitin ligase? |
Melanin color Spongiform Degeneration |
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| Ostm1 |
grey-lethal (Gl) |
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|
Unknown |
Pheomelanin and osteoclast function |
|
Unknown |
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| Pomc |
Pomc1 |
|
|
Red Hair |
Proopiomelanocortin, including Melanocyte Stimulating Hormone (MSH) |
Eumelanin / pheomelanin switch (and endocrine functions) |
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| Slc7a11 |
subtle gray (sut) |
|
|
Unknown |
solute carrier family 7 (cationic amino acid transporter, y+ system), member 11 |
Cysteine transport needed for pheomelanin synthesis |
|
Unknown |
|
| Smarca5 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5, allele MommeD4 |
|
|
Unknown |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 |
Dominant mottled coat with Ay/- |
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| Sox18 |
ragged (rg) |
|
|
Unknown |
SRY-box containing gene 18 |
transcription factor |
|
Unknown |
|
| Sox2 |
SRY-box containing gene 2 (ysb, yellow submarine) |
|
|
Transcription factor Sox2 |
Yellow hair, neural, deafness Sox2 regulates Notch1 in eye |
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Systemic effects |
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| Atox1 |
Antioxidant protein 1 homolog 1 (yeast) |
|
|
Unknown |
Copper transport protein ATOX1 |
copper transport (hypopigmentation) |
|
Unknown |
|
| Atp7a |
mottled (mo) |
|
|
ATPase, Cu(2+)-Transporting alpha polypeptide |
copper transport |
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| Atp7b |
toxic milk (tx) |
|
|
copper-transporting P-type ATPases |
copper transport |
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| Bcl2 |
B-cell leukemia/lymphoma 2 |
|
|
follicular lymphomas |
Inhibitor of apoptosis |
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| Casp3 |
Caspase 3, allele tm1Flv |
|
|
Unknown |
Caspase 3, apoptosis related cystein protease |
Abnormal RPE (molecular function in apoptosis) |
|
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| Dst |
Dystonin (dt, ah), allele dt-J; (dystonia musculorum; athetoid) |
|
|
Unknown |
Dystonin |
Pale skin |
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| Elovl3 |
Elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 3, allele tm1Jaco |
|
|
Unknown |
Elongation of very long chain fatty acids protein 3 |
Abnormal hairs with scattered hyperpigmentation |
|
Unknown |
|
| Elovl4 |
Elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4, allele tm1Jaco |
|
|
Elongation of very long chain fatty acids protein 4 |
Abnormal retinae including RPE, macular distrophy with flecks |
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| Ercc2 |
Ercc2 |
|
|
|
excision repair cross-complementing rodent repair deficiency, complementation group 2 |
Nucleotide excision repair (NER) |
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| Fas |
Fas (TNF receptor superfamily member 6) |
|
|
|
Unknown |
Fas (TNF receptor superfamily member 6) |
Fewer strial melanocytes on certain background |
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|
| Heph |
hephaestin; sex-linked anemia (sla) |
|
|
Unknown |
hephaestin |
abnormal pigment location in RPE |
|
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| Hs2st1 |
heparan sulfate 2-O-sulfotransferase 1 |
|
|
Unknown |
heparan sulfate 2-O-sulfotransferase 1 |
abnormal RPE differentiation | |||