Phenotypes Associated with This Genotype

Genotype
MGI:4421409

• Allelic Composition: Slc24a5^tm1Lex/Slc24a5^tm1Lex
• Genetic Background: involves: 129S5/SvEvBrd * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

pigmentation

abnormal ear pigmentation ( J:137416 )

• the ear pinna is paler than in wild-type mice

• the derma and epidermis of the ear pinna exhibit reduced melanin compared to in wild-type mice

abnormal dermal pigmentation ( J:137416 )

• the derma and epidermis of the ear pinna exhibit reduced melanin compared to in wild-type mice

abnormal epidermal pigmentation ( J:137416 )

• the derma and epidermis of the ear pinna exhibit reduced melanin compared to in wild-type mice

• melanin pigment granules are smaller and paler than in wild-type mice

• melanin granules cluster in caps that cover the more superficial surface of the cell nuclei unlike in wild-type mice

abnormal ciliary body pigmentation ( J:137416 )

• hypopigmented

abnormal iris pigmentation ( J:137416 )

• irides exhibit decreased pigment density compared to in wild-type mice

• irides exhibit reduced melanosome volume, size, and darkness compared to in wild-type mice

• the large round melanosomes of the posterior iris pigment epithelium (IPE) are largely absent

• hypopigmentation is most severe in the anterior layer of the IPE

• melanosomes of the anterior IPE are smaller, paler, and more indistinct than melanosomes in the iris stroma or posterior IPE unlike in wild-type mice

abnormal retina pigment epithelium morphology ( J:137416 )

• retinal pigment epithelium (RPE) is hypopigmented compared to in wild-type mice

• apical melanin granules are smaller and fewer while basal melanosomes are scarce compared to in wild-type mice

abnormal retina pigmentation ( J:137416 )

• the fundus is hypopigmented compared to in wild-type mice

• neuroepithelium-derived pigment cells are severely hypopigmented compared to in wild-type mice

• ocular pigmentation varies between individuals

ocular albinism ( J:137416 )

• mice exhibit hypopigmentation of the retinal pigment epithelium, ciliary body, and iris pigment epithelium compared with wild-type mice

abnormal melanosome morphology ( J:137416 )

• irides exhibit reduced melanosome volume, size, and darkness compared to in wild-type mice

• the large round melanosomes of the posterior iris pigment epithelium are largely absent

• melanosomes of the anterior IPE are smaller, paler, and more indistinct than melanosomes in the iris stroma or posterior IPE unlike in wild-type mice

• apical melanin granules are smaller and fewer while basal melanosomes are scarce compared to in wild-type mice

• melanization is deficient compared to in wild-type mice

abnormal hair shaft melanin granule morphology ( J:137416 )

• in agouti mice, medullary hair cell pigment granules are paler than in wild-type agouti mice

abnormal hair shaft melanin granule shape ( J:137416 )

• in agouti mice, medullary hair cell pigment granules are smaller than in wild-type agouti mice

hypopigmentation ( J:137416 )

• mice exhibit hypopigmentation of the retinal pigment epithelium, ciliary body, and iris pigment epithelium compared with wild-type mice

vision/eye

abnormal ciliary body pigmentation ( J:137416 )

• hypopigmented

abnormal iris pigmentation ( J:137416 )

• irides exhibit decreased pigment density compared to in wild-type mice

• irides exhibit reduced melanosome volume, size, and darkness compared to in wild-type mice

• the large round melanosomes of the posterior iris pigment epithelium (IPE) are largely absent

• hypopigmentation is most severe in the anterior layer of the IPE

• melanosomes of the anterior IPE are smaller, paler, and more indistinct than melanosomes in the iris stroma or posterior IPE unlike in wild-type mice

ocular albinism ( J:137416 )

• mice exhibit hypopigmentation of the retinal pigment epithelium, ciliary body, and iris pigment epithelium compared with wild-type mice

iris hypoplasia ( J:137416 )

• irides are reduced in thickness compared to in wild-type mice

abnormal ocular fundus morphology ( J:137416 )

• the fundus is hypopigmented compared to in wild-type mice

abnormal retina pigment epithelium morphology ( J:137416 )

• retinal pigment epithelium (RPE) is hypopigmented compared to in wild-type mice

• apical melanin granules are smaller and fewer while basal melanosomes are scarce compared to in wild-type mice

abnormal retina pigmentation ( J:137416 )

• the fundus is hypopigmented compared to in wild-type mice

• neuroepithelium-derived pigment cells are severely hypopigmented compared to in wild-type mice

• ocular pigmentation varies between individuals

craniofacial

abnormal ear pigmentation ( J:137416 )

• the ear pinna is paler than in wild-type mice

• the derma and epidermis of the ear pinna exhibit reduced melanin compared to in wild-type mice

hearing/vestibular/ear

abnormal ear pigmentation ( J:137416 )

• the ear pinna is paler than in wild-type mice

• the derma and epidermis of the ear pinna exhibit reduced melanin compared to in wild-type mice

integument

abnormal ear pigmentation ( J:137416 )

• the ear pinna is paler than in wild-type mice

• the derma and epidermis of the ear pinna exhibit reduced melanin compared to in wild-type mice

abnormal hair shaft melanin granule morphology ( J:137416 )

• in agouti mice, medullary hair cell pigment granules are paler than in wild-type agouti mice

abnormal hair shaft melanin granule shape ( J:137416 )

• in agouti mice, medullary hair cell pigment granules are smaller than in wild-type agouti mice

abnormal dermal pigmentation ( J:137416 )

• the derma and epidermis of the ear pinna exhibit reduced melanin compared to in wild-type mice

abnormal epidermal pigmentation ( J:137416 )

• the derma and epidermis of the ear pinna exhibit reduced melanin compared to in wild-type mice

• melanin pigment granules are smaller and paler than in wild-type mice

• melanin granules cluster in caps that cover the more superficial surface of the cell nuclei unlike in wild-type mice

growth/size/body

abnormal ear pigmentation ( J:137416 )

• the ear pinna is paler than in wild-type mice

• the derma and epidermis of the ear pinna exhibit reduced melanin compared to in wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
ocular albinism 1		DOID:0050633	OMIM:300500	J:137416