Color Genes - ESPCR & IFPCS

Current symbol	Murine Locus (pictures)	Mouse Chrom.	KOMP TRAPS	Human Locus	Human Chromosome	Associated Disease	Protein Encoded	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		Unknown
*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) (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*
*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
*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)	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		Unknown
*Ednrb*	piebald spotting (s) (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
*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*
*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*
*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) (3)	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 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		Unknown
*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*
*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)		Unknown
*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)		Unknown
*Mitf*	microphthalmia (mi) (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		Unknown
*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*
*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) (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 A^t, a^e		*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 G_q 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		Unknown
*Zfp53*	zinc finger protein 53	17	KO traps	Unknown	Unknown	Unknown	Transcription factor? in situ	Abnormal skin pigmentation		Unknown
Zic2	Zinc finger protein of the cerebellum 2, 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) (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 Tyrp1^b/b		Unknown
Si	gp100/gp87/silver protein, Pmel17, silver (si)	10	KO traps	*SILV*	12q13-q14	Unknown	melanosomal matrix protein, trapping of melanin intermediates? in situ	Silvering with postnatal melanocyte loss in eumelanic animals (varying with strain background)		*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) (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) (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		Unknown
*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) (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		Unknown
*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		Unknown
*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		Unknown
*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	*TXNDC5*	6p24.3-25.1	Unknown	BLOC-1 subunit, TXNDC5 in situ	Organelle biogenesis		txndc5
*Oca2*	pinkeyed-dilution (p) (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	Unknown	pallidin in situ	vesicle-docking and fusion		Unknown
*Rab38*	chocolate (cht) (1)	7	KO traps	*RAB38*	11q14	Unknown	Member of RAS oncogene family in situ	Targeting of Tyrp1 protein to the melanosome		Unknown
*Rabggta*	gunmetal (gm)	14	KO traps	*RABGGTA*	14q11.2	Unknown	alpha-subunit of rab geranylgeranyl transferase in situ	Organelle biogenesis		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		Unknown
Eumelanin and Pheomelanin
a	nonagouti (a) (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)		Unknown
*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
*Edaradd*	Ectodysplasin A receptor-associated death domain (cr, crinkled)	13	KO traps	*EDARADD*	1q43	Unknown	Delayed hair growth, agouti coat darker dorsally, yellower laterally in situ	Ectodysplasin A receptor-associated death domain		*edaradd*
*Ggt1*	Ggt1	10	KO traps	*GGT1*	22q1	Glutathionuria	gamma glutamyltranspeptidase 1 in situ	Glutathione metabloism (pheomelanin synthesis)		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*
*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		Unknown
*Pomc*	Pomc1	12	KO traps	*POMC*	2p23.3	Red Hair	Proopiomelanocortin, including Melanocyte Stimulating Hormone (MSH) in situ	Eumelanin / pheomelanin switch (and endocrine functions)

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

Development

Components of melanosomes and their precursors

Melanosome construction / protein routing (HPS-related)

Melanosome transport

Eumelanin and Pheomelanin