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Phenotypes Associated with This Genotype
Genotype
MGI:3587945
Allelic
Composition
Gpr143tm1Inc/Y
Genetic
Background
either: (involves: 129/Sv * 129S7/SvEvBrd * C57BL/6) or (involves: 129S7/SvEvBrd * C57BL/6)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gpr143tm1Inc mutation (2 available); any Gpr143 mutation (6 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• retinofugal pathway displays a misrouting of optic fibers at the chiasm with an inappropriate crossing of the ipsilateral component

pigmentation
• abnormally large melanin granules, as well as normal sized melanosomes, are dispersed within the pigment epithelium of the ciliary body at P1
• abnormally large melanin granules, as well as normal sized melanosomes, are dispersed within the pigment epithelium of the iris at P1
• more lightly pigmented than in controls
• abnormally large melanin granules, as well as normal sized melanosomes, are dispersed within the pigment epithelium of the retina at P1
• at P7, majority of melanosomes in the retinal pigment epithelium are giant
• macromelanosomes (giant melanosomes) are observed in the retina, iris and ciliary body epithelium but not in skin, hair or uveal melanocytes
• diameter or macromelanosomes is about 3 times that of normal melanosomes

vision/eye
• retinofugal pathway displays a misrouting of optic fibers at the chiasm with an inappropriate crossing of the ipsilateral component
• abnormally large melanin granules, as well as normal sized melanosomes, are dispersed within the pigment epithelium of the ciliary body at P1
• abnormally large melanin granules, as well as normal sized melanosomes, are dispersed within the pigment epithelium of the iris at P1
• hypopigmentation of the ocular fundus
• more lightly pigmented than in controls
• abnormally large melanin granules, as well as normal sized melanosomes, are dispersed within the pigment epithelium of the retina at P1
• at P7, majority of melanosomes in the retinal pigment epithelium are giant

Mouse Models of Human Disease
OMIM ID Ref(s)
Albinism, Ocular, Type I; OA1 300500 J:66139


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/17/2016
MGI 6.03
The Jackson Laboratory