Analysis Tools
nervous system
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• this early-onset photoreceptor degeneration is more severe than that of the tvrm119 allele, with normal histology at 8 days of age, but shortened photoreceptor outer segments and only 7 layers of photorecepto nuclei at 12 days of age, and only 1 layer of nuclei at 1 month of age
• at 12 days of age immunohistology for rhodopsin and cone arrestin shows mislocalized rod pigments and displaced cones
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vision/eye
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• this early-onset photoreceptor degeneration is more severe than that of the tvrm119 allele, with normal histology at 8 days of age, but shortened photoreceptor outer segments and only 7 layers of photorecepto nuclei at 12 days of age, and only 1 layer of nuclei at 1 month of age
• at 12 days of age immunohistology for rhodopsin and cone arrestin shows mislocalized rod pigments and displaced cones
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• at 18 days of age dark-adapted ERG responses are absent, a phenotype more severe than that found in tvrm119 homozygotes
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Leber congenital amaurosis 4 | DOID:0110332 |
OMIM:604393 |
J:243745 | |
