The following table contains coat color genes described in mice and their human 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 coat 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 127 loci described in this table.

There are two sets of loci:

Summary of cloned coat color genes

Summary of non-cloned coat color genes


We hope that this table is of use to you. If you have any corrections or additions, please let us know at bill@lenti.med.umn.edu. Though we have tried to make this information as accurate as possible, the IFPCS makes no guarantee as to the accuracy of this information.

Many of these coat color mutations can be obtained from the Jackson Laboratories or the Mutant Mouse Regional Resource Centers.


Note: The links under the "Current symbol" row contain the most current information from Jackson Laboratories (Mouse Genome Informatics (MGI)) . The links under "Murine Locus" contain older information, but in some cases there are images of the different alleles.

Summary of the cloned mouse color genes and human homologues

Current symbol
(MGI Links)
Murine Locus Mouse
Chrom.
Human Locus
(OMIM Links)
Human Chromosome Associated Disease
(OMIM Links)
Protein Encoded Function in Pigmentation Mutation Database

Development

Adam17 Adam17 12 ADAM17 2p25 Unknown a disintegrin and metalloproteinase domain 17 Protease, processing various surface proteins
Adamts20 belted (bt) 15 ADAMTS20 12q12 Unknown A disintegrin and metalloprotease domain (reprolysin type) with thrombospondin type 1 motif, 20 Metalloprotease. Melanoblast migration?
Brca1 Brca1 11 BRCA1 17q21 Breast/ovarian cancer Tumor suppressor Development of various organs.
Eda Tabby (Ta) X ED1 Xq12-q13 Ectodermal dysplasia type 1 ectodysplasin-A Sweat gland, tooth and hair morphogenesis
Edn3 lethal spotting (ls) 2 EDN3 20q13.2-q13.3 Waardenburg-Shah Syndrome endothelin 3 melanocyte development Mutations of EDN3
Ednrb piebald spotting (s) 14 EDNRB 13q22 Hirschsprung's disease type 2 endothelin receptor B melanoblast differentiation Mutations of EDNRB
Egfr dark skin 5 (dsk5) 11 EGFR 7p12.3 Unknown epidermal growth factor receptor Growth factor receptor
Fgfr2 Fgfr2 7 FGFR2 10q26 Crouzon syndrome
Apert syndrome
Pfeiffer syndrome
Fibroblast growth factor receptor 2 Growth factor receptor
Gnaq dark skin 1 (dsk1)
dark skin 10 (dsk10)
19 GNAQ 9q21 Diminished platelet aggregation Guanine nucleotide binding protein subunit Gaq GPCR signalling: limits melanocyte proliferation
Gna11 dark skin 7 (dsk7) 10 GNA11 19p13 Unknown Guanine nucleotide binding protein subunit Ga11 GPCR signalling: limits melanocyte proliferation
Ikbkg inhibitor of kappaB kinase gamma X IKBKG Xq28 Incontinentia pigmenti inhibitor of kappaB kinase gamma IkB kinase. Required for NFkB signalling
Kit dominant white-spotting (W) 5 KIT 4q11-12 Piebaldism Receptor for SCF Melanoblast proliferation survival, homing Mutations of KIT
Kitl steel (Sl) 10 KITLG 12q22 Unknown Stem cell factor (SCF)
(Kit ligand)
Melanoblast proliferation survival, homing
Krt2-1 dark skin 12 (dsk12) 15 KRT1 12q13 epidermolytic hyperkeratosis keratin 1 Primary action in keratinocytes. Limits melanization
Krt2-17 dark skin 2 (dsk2) 15 KRT2A 12q11-q13 Ichthyosis bullosa of Siemens keratin complex 2, basic, gene 17 Keratin
Lmx1a dreher (dr) 1 LMX1A 1q22-23 Unknown LIM homeodomain protein 1 transcription factor
Mcoln3 varitint-waddler (Va) 3 MCOLN3 1p22.3 Unknown mucolipin 3 Cation channel
ion homeostasis?
Mitf microphthalmia (mi) 6 MITF 3p12-14 Waardenburg syndrome type 2 transcription factor melanocyte differentiation Mutations of MITF
Pax3 splotch (Sp) 1 PAX3 2q35 Waardenburg syndrome type 1

WS type 3

PAX-3 transcription factor neural tube development Mutations of PAX3
Sfxn1 flexed tail 13 SFXN1 5q35.3 Unknown sideroflexin 1 Tricarboxylate carrier
Snai2 snail homolog 2 (Drosophila) 16 SNAI2 8q11 Waardenburg syndrome 2 Neural crest transcription factor Transcription factor
Sox10 Dominant megacolon (Dom) 15 SOX10 22q13 Waardenburg-Shah Syndrome SRY-box containing gene 10 transcriptional activator Mutations of SOX10
Sox18 ragged (ra)
dark coat color 1 (Dcc1)
2 SOX18 20q13.33 Unknown SRY-box containing gene 18 transcription factor
Tcfap2A transcription factor AP-2, alpha 13 TFAP2A 6p24 Unknown Transcription factor
Can regulate kit
Mouse knock-out produces coat color defects
Wdt2 dilute suppressor (dsu) 1 Unknown whn-dependent transcript 2 Melanosome transport
Wnt1 wingless-related MMTV integration site 1 15 WNT1 12q13 Unknown Growth factor/morphogen Secreted bioactive peptide
Wnt3a wingless-related MMTV integration site 3A 11 WNT3A 1q42 Unknown Growth factor/morphogen Secreted bioactive peptide
Zic2
Kumba (Ku)
14
ZIC2
13q32
Holoprosencephaly 5 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) 14 DCT 13q31-q32 Unknown tyrosinase related protein 2 (TRP2) DOPAchrome tautomerase
Gpnmb iris pigment dispersion (ipd) 6 GPNMB 7q pigment-dispersion syndrome (GPDS1)? Glycoprotein (transmembrane) Apparent melanosomal component
Matp underwhite (uw) 15 MATP 5p oculocutaneous albinism type 4 (OCA4) Membrane-associated transporter protein transporter Mutations of MATP
Rab38 chocolate (cht) 7 RAB38 11q14 Unknown Member of RAS oncogene family Targeting of Tyrp1 protein to the melanosome
si silver (si) 10 SILV 12q13-q14 Unknown gp100/silver protein, Pmel17 melanosomal matrix protein
Tyr albino, color (c) 7 TYR 11q21 oculocutaneous albinism type 1 (OCA1) tyrosinase melanogenic enzyme Mutations of TYR
Tyrp1 brown (b) 4 TYRP1 9p23 oculocutaneous albinism type 3 (OCA3)

Rufous albinism

tyrosinase related protein 1 (TRP1) melanosomal enzyme/stabilizing factor Mutations of TYRP1

Melanosome construction / protein routing (HPS-related)

Ap3b1 pearl (pe) 13 AP3B1 15q14 Hermansky Pudlak syndrome type 2

HPS - General

beta-3 subunit of adaptor protein 3 complex (AP-3) Organellar protein routing Mutations of ADTB3A
Ap3d mocha (mh) 10 AP3D1 19p13.3 Unknown delta subunit of adaptor protein 3 complex (AP-3) Organellar protein routing
Bloc1s3
Reduced pigmentation (rp)
7 BLOC1S3 19q13.32 Hermansky Pudlak syndrome type 8 Unknown a component of the BLOC1 protein transport complex
cno cappuccino (cno) 5 CNO 4p16-p15 Unknown Unknown Organelle biogenesis
Dtnbp1 sandy (sdy) 13 DTNBP1 6p22.3 Hermansky Pudlak syndrome type 7

HPS - General

dysbindin lysosome-related organelles complex 1 (BLOC-1)
Hps1 pale ear (ep) 19 HPS1 10q23 Hermansky Pudlak syndrome type 1

HPS - General

membrane protein Organelle biogenesis and size Mutations of HPS1
Hps3 cocoa (coa) 3 HPS3 3q24 Hermansky Pudlak Syndrome type 3

HPS - general

Unknown Organelle biogenesis Mutations of HPS3
Hps4 light ear (le) 5 HPS4 22q11.2-q12.2 Hermansky Pudlak Syndrome type 4

HPS - General

Unknown Organelle biogenesis and size
Ruby-eye 2 (ru2) 7
HPS5
11p15-p13
Hermansky Pudlak syndrome type 5

HPS - General

Unknown biogenesis of lysosome-related organelles complex-2
Ruby-eye (ru) 19
HPS6
10q24.31
Hermansky Pudlak syndrome type 6

HPS - General

Unknown biogenesis of lysosome-related organelles complex-2
Lyst beige (bg) 13 LYST 1q42 Chediak Higashi syndrome membrane protein Organelle biogenesis and size Mutations of CHS1
muted muted (mu) 13 MU 6p24.3-25.1 Unknown Organelle biogenesis
Gpr143 Oa1 (oa1) X OA1 Xp22.3 ocular albinism type 1 G-protein-coupled receptor Melanosome Biogenesis
signal transduction
Mutations of OA1
p pinkeyed-dilution (p) 7 P 15q11.2-q12 oculocutaneous albinism type 2 (OCA2) Unkonwn Melanosome biogenesis and size Mutations of P
Pldn pallid (pa) 2  PLDN 15q15 Unknown pallidin vesicle-docking and fusion
Rabggta gunmetal (gm) 14 RABGGTA 14q11.2 Unknown alpha-subunit of rab geranylgeranyl transferase Organelle biogenesis
Vps33a
buff (bf)
5
VPS33A
12q24.31
Unknown vacuoloar protein sorting 33a Organellar protein routing

Melanosome transport

Mlph leaden (ln) 1 MLPH 2q37 Griscelli syndrome (?) melanophilin melanosome transport
Myo5a dilute (d) 9 MYO5A 15q21 Griscelli syndrome myosin type Va melanosome transport
Myo7a shaker-1 (sh-1) 7 MYO7A 11q13.5 Usher syndrome type IB Myosin type VIIa Melanosome transport in RPE Mutations of MYO7A
Rab27a ashen (ash) 9 RAB27A 15q21 Griscelli syndrome RAS associated protein melanosome transport

Eumelanin and pheomelanin

a nonagouti (a) 2 ASIP 20q11.2 hair color/skin type agouti signal protein (ASIP) Eumelanin / pheomelanin switch
Atrn mahogany (mg) 2 ATRN 20p13 Unknown Attractin Eumelanin / pheomelanin switch (among others)
Ggt1 Ggt1 10 GGT1 22q1 Glutathionuria gamma glutamyltranspeptidase 1 Glutathione metabloism (pheomelanin synthesis
Ostm1 grey-lethal (Gl) 10 GL 6q21 autosomal recessive osteopetrosis Unknown Pheomelanin and osteoclast function
Mc1r extension (e) 8 MC1R 16q24.3 hair color/skin type Melanocortin 1 receptor Eumelanin / pheomelanin switch Mutations of MC1R
Mgrn1 Mahoganoid (md) 16 MGRN1 16p13.3 Unknown E3 ubiquitin ligase? Melanin color
Spongiform Degeneration
Pomc1 Pomc1 12 POMC 2p23.3 Red Hair Proopiomelanocortin, including Melanocyte Stimulating Hormone (MSH) Eumelanin / pheomelanin switch
(and endocrine functions)
Slc7a11 subtle gray (sut) 3 SLC7A11 4 Unknown solute carrier family 7 (cationic amino acid transporter, y+ system), member 11 Cysteine transport needed for pheomelanin synthesis

Systemic effects

Atp7a mottled (mo) X ATP7A Xq12-q13 Menkes disease ATPase, Cu(2+)-Transporting alpha polypeptide copper transport Mutations of ATP7A
Atp7b toxic milk (tx) 8 ATP7B 13q14.3-q21.1 Wilson disease copper-transporting P-type ATPases copper transport Mutations of ATP7B
Bcl2 B-cell leukemia/lymphoma 2 1 BCL2 18q21.3 follicular lymphomas Inhibitor of apoptosis
Ercc2
Ercc2
7
ERCC2
19q13
xeroderma pigmentosum group D excision repair cross-complementing rodent repair deficiency, complementation group 2 Nucleotide excision repair (NER)


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

Note: Categories and functions are mostly provisional or speculative

Current symbol
(MGI Links)
Murine Locus Mouse
Chrom.
Human Locus
(OMIM Links)
Human Chromosome Associated Disease
(OMIM Links)
Protein Encoded Function in Pigmentation Mutation Database

Development

Alm anterior lenticonus with microphthalmia (Alm) ? ? ? ? ? Eye, coat others
baln2 balance 2 (baln2) ? ? ? ? ? Eye, coat, skeletal
Bst belly spot and tail (Bst) 16 ? ? ? ? Eye, coat, skeletal
Bswt belly spot with white toes (Bswt) 1 ? ? ? ? belly spot with white hind toes
bt2 belted 2 (bt2) ? ? ? ? ? White belt
crsp cryptorchidism with white spotting (crsp) 5 ? ? ? ? Coat and skin pigment, male reproductive system
Dc dancer (Dc) 19 ? ? ? ? Head pigment, ear, palate, neural
dds dorsal dark stripe (dds) 15 ? ? ? ? Dorsal pigment
dwg dwarf grey (dwg) ? ? ? ? ? Multiple including pheomelanin, osteoclasts
fc flecking (fc) 2 ? ? ? ? Head and belly spot
Fk Fleck (Fk) ? ? ? ? ? White on belly, tail and feet
gr grizzled (gr) 10 ? ? ? ? Pheomelanin, tail
hs head spot (hs) ? ? ? ? ? Head spot
Ph Patch deletion region (Ph) 5 ? ? ? ? Spotting gene. Not Pdgfra.
pwk patchwork (pwk) 10 ? ? ? ? Autocrine growth
rn roan (rn) 14 ? ? ? ? micro-spotting, whole coat
rg rotating (rg) ? ? ? ? ? Ear development, neural, sometimes belly spot
rs recessive spotting (rs) 5 ? ? ? ? Melanocyte numbers. Interacts with Kit.
smk smoky (smk) ? ? ? ? ? pigment color, reproductive system
tp taupe (tp) 7 ? ? ? ? pigment color, female reproductive system
vl vaculated lens (vl) 1 ? ? ? ? lens, spine development, sometimes belly spot
vs variable spotting (vs) 9 ? ? ? ? white on belly, head, tail and feet
Whto White toes (Whto) 7 ? ? ? ? color, digit development
wn white nose (wn) 15 ? ? ? ? White nose, ventral streak
Xs extra toes spotting (Xs) 7 ? ? ? ? color, digit development
ysb yellow submarine (ybs) 3 ? ? ? ? ear, neural, eumelanin

Melanocyte function only

brwd brownoid (brwd) ? ? ? ? ? Melanin color (brown)
da dark (da) 7 ? ? ? ? pheomelanin (extinct?)
dp dilution-Peru (dp) 15 ? ? ? ? pale coat
gdn golden (gdn) ? ? ? ? ? eumelanin
rmy Rimy (rmy) 11 ? ? ? ? pheomelanin
sea sepia 1 ? ? ? ? coat color dilution
U Umbrous (U) ? ? ? ? ? pheomelanin
Up Umbrous-patterned (Up) ? ? ? ? ? pheomelanin (patchy)

Melanocytes and platelets (HPS-related?)

m misty (m) 4 ? ? ? ? adenine nucleotide metabolism

Systemic effects

acd adrenocortical dysplasia (acd) 8 ? ? ? ? Adrenal cortex development

dark skin

Dfp dark foot pads (Dfp) ? ? ? ? ? Skin color
Dfp2 dark foot pads 2 (Dfp2) 4 ? ? ? ? Skin color
Dsk3 Dark skin 3 (Dsk3) 7 ? ? ? ? Skin Color
Dsk4 Dark skin 4 (Dsk4) 4 ? ? ? ? Skin Color
Dsk6 Dark skin 6 (Dsk6) 3 ? ? ? ? Skin Color
Dsk8 Dark skin 8 (Dsk8) 3 ? ? ? ? Skin Color
Dsk9 Dark skin 9 (Dsk9) 11 ? ? ? ? Skin Color
soo sooty foot (soo) 2 ? ? ? ? Skin Color

Unknown

fe faded (fe) 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
gri grey intense (gri) 11 ? ? ? ? Pigment color
lgr London grey (lgr) ? ? ? ? ? Grey coat, later patchy, systemic effects
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
Och Ochre (Och) 4 ? ? ? ? Eumelanin. balance, other
Sta Autotomal striping (Sta) X ? ? ? ? Striping in both sexes
Strg Striped greasy (Strg) X ? ? ? ? Hair texture and color
wuf white underfur (wuf) ? ? ? ? ? Underfur white (Extinct?)
Ym Yellow mottled (Ym) X ? ? ? ? Yellow mottling, hemizygous lethal


Thanks to Drs. Dot Bennett (St. George's Hospital Medical School, London) and Vince Hearing (N.I.H) for their help on this table. Mouse image by Dr. 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.

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

Oetting WS, Bennett DC. Mouse Coat Color Genes. (Month, year). International Federation of Pigment Cell Societies. World Wide Web (URL: http://www.cbc.umn.edu/ifpcs/micemut.htm).

Please send corrections, questions or comments to Bill Oetting
Last modified on April 6, 2006.


Copyright 2006, International Federation of Pigment Cell Societies.