vision/eye
• fundus exhibit accelerated and more pronounced hyperfluorescent spots compared to in wild-type mice
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• at 8 months
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• by 15 months, all inner segments are swollen compared to in wild-type mice
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• mildly swollen at 12 months
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• pyknotic at 12 months
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• swelling of cone inner segments at 8 months
• mildly swollen at 12 months
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• retinal pigmented epithelium (RPE) apical processes are retracted into the sub-retinal space and are no longer surrounded by photoreceptor outer segment compared to in wild-type mice
• RPE contain vacuoles throughout the basal portion of the cytoplasms and nuclei are displaced compared to in wild-type cells
• the RPE exhibits signs of oxidative stress between 5 to 21 months
• at 12 months, the basal portion of the RPE contained vesicular-like or vacuole-like structures with amorphous substances (possibly lipids) unlike in wild-type mice
• at 15 months, mice exhibit sub RPE drusen-like deposits unlike in wild-type mice
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• progressive outer retina degeneration
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• by 21 months, overall retinal thickness is decreased compared to in wild-type mice
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• as early as 5 months
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• at 18 months, S-cone and M-cone electroretinogram response amplitudes are smaller than in wild-type mice
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• cone-mediated b-wave amplitude is lower than in wild-type mice
• defects worsen with time
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• dark-adapted a and b-wave amplitudes are smaller than in wild-type mice
• mice exhibit slower recovery of b-wave amplitude compared with wild-type mice
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cardiovascular system
• at 21 months, retina vasculature leakage is increased compared to in wild-type mice
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nervous system
• at 8 months
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• by 15 months, all inner segments are swollen compared to in wild-type mice
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• mildly swollen at 12 months
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• pyknotic at 12 months
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• swelling of cone inner segments at 8 months
• mildly swollen at 12 months
|
pigmentation
• retinal pigmented epithelium (RPE) apical processes are retracted into the sub-retinal space and are no longer surrounded by photoreceptor outer segment compared to in wild-type mice
• RPE contain vacuoles throughout the basal portion of the cytoplasms and nuclei are displaced compared to in wild-type cells
• the RPE exhibits signs of oxidative stress between 5 to 21 months
• at 12 months, the basal portion of the RPE contained vesicular-like or vacuole-like structures with amorphous substances (possibly lipids) unlike in wild-type mice
• at 15 months, mice exhibit sub RPE drusen-like deposits unlike in wild-type mice
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
late-onset retinal degeneration | DOID:0060869 |
OMIM:605670 |
J:171089 |