Mouse Genome Informatics
ot1
    Gpr143tm1Inc/Y
either: (involves: 129/Sv * 129S7/SvEvBrd * C57BL/6) or (involves: 129S7/SvEvBrd * C57BL/6)
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
nervous system
• retinofugal pathway displays a misrouting of optic fibers at the chiasm with an inappropriate crossing of the ipsilateral component (J:66139)

pigmentation
• abnormally large melanin granules, as well as normal sized melanosomes, are dispersed within the pigment epithelium of the ciliary body at P1 (J:66139)
• abnormally large melanin granules, as well as normal sized melanosomes, are dispersed within the pigment epithelium of the iris at P1 (J:66139)
• more lightly pigmented than in controls (J:66139)
• abnormally large melanin granules, as well as normal sized melanosomes, are dispersed within the pigment epithelium of the retina at P1 (J:66139)
• at P7, majority of melanosomes in the retinal pigment epithelium are giant (J:66139)
• macromelanosomes (giant melanosomes) are observed in the retina, iris and ciliary body epithelium but not in skin, hair or uveal melanocytes (J:66139)
• diameter or macromelanosomes is about 3 times that of normal melanosomes (J:66139)

vision/eye
• retinofugal pathway displays a misrouting of optic fibers at the chiasm with an inappropriate crossing of the ipsilateral component (J:66139)
• abnormally large melanin granules, as well as normal sized melanosomes, are dispersed within the pigment epithelium of the ciliary body at P1 (J:66139)
• abnormally large melanin granules, as well as normal sized melanosomes, are dispersed within the pigment epithelium of the iris at P1 (J:66139)
• hypopigmentation of the ocular fundus (J:66139)
• more lightly pigmented than in controls (J:66139)
• abnormally large melanin granules, as well as normal sized melanosomes, are dispersed within the pigment epithelium of the retina at P1 (J:66139)
• at P7, majority of melanosomes in the retinal pigment epithelium are giant (J:66139)

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