vision/eye
• widespread yellow flecks are seen in the fundus at P180
• however, no changes in retinal vasculature are seen at P180
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• small rounded outer segment structures are seen at P30 that disappear by P180
• outer segment formation initiates, however structures are small at P30 and outer segments do not exhibit normal discs/lamellae but do have flattened, whorl shaped membranes
• many abnormal vesicular structures line up adjacent to the flattened discs
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• abnormal disc sizing
• misorientation of outer segment discs in relation to each other and the axoneme/connecting cilium
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• photoreceptor degeneration is severe by P180
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• small reduction in the outer nuclear layer thickness at P30 and by P180, the outer nuclear layer is thin in the central retina and almost absent in the periphery
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• scotopic a wave amplitude is reduced at P30 and P180
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• scotopic b wave amplitude is reduced at P30 and P180
• photopic b wave amplitude is reduced at P30 and P180
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• photopic ERG responses are lower
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• scotopic responses are reduced at P30 and P180, with no mice exhibiting an a-wave above the limit of detection
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nervous system
• small rounded outer segment structures are seen at P30 that disappear by P180
• outer segment formation initiates, however structures are small at P30 and outer segments do not exhibit normal discs/lamellae but do have flattened, whorl shaped membranes
• many abnormal vesicular structures line up adjacent to the flattened discs
|
• abnormal disc sizing
• misorientation of outer segment discs in relation to each other and the axoneme/connecting cilium
|
• photoreceptor degeneration is severe by P180
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
patterned macular dystrophy 1 | DOID:0060866 |
OMIM:169150 |
J:215646 |