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The following table contains information on 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 130 loci described in this table.
There are two sets of loci:
Summary of cloned coat color genes
Summary of non-cloned coat color genes
Last modified on May 6, 2008
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 makes no guarantee as to the accuracy of this information.
Many of these coat 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 colour descriptions from some of these mouse coat colour 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
of 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. Finally, last column contains a link to all NCBI databases
(i.e. including PubMed) with information about the gene or locus. The links under "Murine Locus" provide illustrative images
, if available, of mice displaying the phenotype of some alleles of the corresponding gene.
Summary of the cloned mouse color genes and human homologues
|
Current symbol |
Murine Locus
|
Mouse
|
Human Locus |
Human Chromosome
|
Associated Disease
|
Protein Encoded |
Function in Pigmentation |
All NCBI Databases
|
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? |
|
|
| Brca1 |
Brca1 |
|
|
Breast/ovarian cancer |
Tumor suppressor |
Development of various organs. |
|
|
| Eda |
Tabby (Ta) |
|
|
ectodysplasin-A |
Sweat gland, tooth and hair morphogenesis |
|
||
| Edn3 |
lethal spotting (ls) |
|
|
endothelin 3 |
melanocyte development |
|
||
| Ednrb |
piebald spotting (s)
|
|
|
endothelin receptor B |
melanoblast differentiation |
|
||
| Egfr |
dark skin 5 (dsk5) |
|
|
Unknown |
epidermal growth factor receptor |
Growth factor receptor |
|
|
| Fgfr2 |
Fgfr2 |
|
|
Fibroblast growth factor receptor 2 |
Growth factor receptor |
|
||
| Gnaq |
dark skin 1 (dsk1) |
|
|
Diminished platelet aggregation |
Guanine nucleotide binding protein subunit Gaq |
GPCR signalling: limits melanocyte proliferation |
|
|
| Gna11 |
dark skin 7 (dsk7) |
|
|
Unknown |
Guanine nucleotide binding protein subunit Ga11 |
GPCR signalling: limits melanocyte proliferation |
|
|
| Ikbkg |
inhibitor of kappaB kinase gamma |
|
|
inhibitor of kappaB kinase gamma |
IkB kinase. Required for NFkB signalling |
|
||
| 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 |
|
||
| Krt2 |
dark skin 2 (dsk2) |
|
|
keratin complex 2, basic, gene 17 |
Keratin |
|
||
| Lmx1a |
dreher (dr) |
|
|
Unknown |
LIM homeodomain protein 1 |
transcription factor |
|
|
| Mcoln3 |
varitint-waddler (Va) |
|
|
Unknown |
mucolipin 3 |
Cation channel ion homeostasis? |
|
|
| Mitf |
microphthalmia (mi) |
|
|
transcription factor |
melanocyte differentiation |
|
||
| Mreg |
dilute suppressor (dsu) |
|
|
Unknown |
whn-dependent transcript 2 (Wdt2) Melanoregulin |
Melanosome transport |
|
|
| Pax3 |
splotch (Sp) |
|
|
PAX-3 transcription factor |
neural tube development |
|
||
| Sfxn1 |
flexed tail (f) |
|
SFXN1 |
|
Unknown |
sideroflexin 1 Note: there is an alternative identification of f as Smad5 |
Tricarboxylate carrier |
|
| Snai2 |
snail homolog 2 (Drosophila) |
|
|
Neural crest transcription factor |
Transcription factor |
|
||
| Sox10 |
Dominant megacolon (Dom)
|
|
|
SRY-box containing gene 10 |
transcriptional activator |
|
||
| Sox18 |
ragged (ra) |
|
|
Unknown |
SRY-box containing gene 18 |
transcription factor |
|
|
| Tcfap2a |
transcription factor AP-2, alpha |
|
|
Unknown |
Transcription factor |
Mouse knock-out produces coat color defects |
|
|
| 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 |
|
|
| Zic2 |
Kumba (Ku) |
|
|
|
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)
|
|
|
Unknown |
tyrosinase related protein 2 (TRP2) |
DOPAchrome tautomerase |
|
|
| Gpnmb |
iris pigment dispersion (ipd) |
|
|
Glycoprotein (transmembrane) |
Apparent melanosomal component |
|
||
| Rab38 |
chocolate (cht) |
|
|
Unknown |
Member of RAS oncogene family |
Targeting of Tyrp1 protein to the melanosome |
|
|
| Si |
silver (si) |
|
|
Unknown |
gp100/silver protein, Pmel17 |
melanosomal matrix protein |
|
|
| 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 |
|
|
| Bloc1s3 |
Reduced pigmentation (rp) |
|
|
Unknown |
a component of the BLOC1 protein transport complex |
|
||
| 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 |
|
|||
| Gpr143 |
Oa1 (oa1) |
|
|
|
G-protein-coupled receptor (GPR143) |
Melanosome Biogenesis signal transduction |
|
|