Analysis Tools
nervous system
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• retinofugal pathway displays a misrouting of optic fibers at the chiasm with an inappropriate crossing of the ipsilateral component
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pigmentation
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• abnormally large melanin granules, as well as normal sized melanosomes, are dispersed within the pigment epithelium of the ciliary body at P1
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• abnormally large melanin granules, as well as normal sized melanosomes, are dispersed within the pigment epithelium of the iris at P1
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• more lightly pigmented than in controls
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• 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
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• 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
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vision/eye
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• retinofugal pathway displays a misrouting of optic fibers at the chiasm with an inappropriate crossing of the ipsilateral component
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• abnormally large melanin granules, as well as normal sized melanosomes, are dispersed within the pigment epithelium of the ciliary body at P1
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• abnormally large melanin granules, as well as normal sized melanosomes, are dispersed within the pigment epithelium of the iris at P1
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• hypopigmentation of the ocular fundus
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• more lightly pigmented than in controls
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• 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
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| ocular albinism 1 | DOID:0050633 |
OMIM:300500 |
J:66139 | |
