Analysis Tools
vision/eye
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• attenuated retinal vessels at 5 months of age
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• by 5 months of age there is a loss of 20-30% of photoreceptors and rapid loss after that with no photoreceptors found at 7 months of age
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• homozygotes develop late onset retinal degeneration with rapid progression, which leads to retinal detachment
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• presenting at approximately 7 months of age
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• dark-adapted ERG responses begin to decrease after 4 months of age while the loss of light-adapted ERG responses is slightly delayed beyond that, but by 8 months there are no ERG responses
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• although the cone ERG response are approximately normal at 5 months of age there is no rod or cone ERG response at 8 months of age
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• at 4 months of age the rod ERG is near normal, but at 5 months of age there is a lower ERG a-wave and almost normal b-wave, and at 8 months of age there is no ERG a-wave or b-wave
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• no cone or rod ERG waveform is detectable at 8 months of age
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nervous system
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• by 5 months of age there is a loss of 20-30% of photoreceptors and rapid loss after that with no photoreceptors found at 7 months of age
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cardiovascular system
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• attenuated retinal vessels at 5 months of age
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| retinal degeneration | DOID:8466 | J:242762 | ||
