vision/eye
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• outer segment length is reduced at 6 months of age
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• rhodopsins are not appreciably mislocalized but are reduced in the outer segments
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• blue and green opsins are partially mislocalized to the inner segment, perinuclear, and synaptic regions
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• substantial loss of photoreceptor cells by 6 months
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• loss of nearly all cones by 2 years of age
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• loss of 2/3 of rods by 2 years of age
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• thickness of the outer nuclear layer is reduced at 6 months of age
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• retinal degeneration apparently under way by 2 months of age
• reduction in photoreceptor nuclear layer thickness
• newly formed disk membranes are disorganized
• connecting cilia are normal
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• retinal function normal at 30 days
• abnormal function appears in conjunction with morphological degeneration
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nervous system
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• outer segment length is reduced at 6 months of age
|
|
• rhodopsins are not appreciably mislocalized but are reduced in the outer segments
|
|
• blue and green opsins are partially mislocalized to the inner segment, perinuclear, and synaptic regions
|
|
• substantial loss of photoreceptor cells by 6 months
|
|
• loss of nearly all cones by 2 years of age
|
|
• loss of 2/3 of rods by 2 years of age
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
retinitis pigmentosa 3 | DOID:0110414 |
OMIM:300029 |
J:61371 | |
X-linked cone-rod dystrophy 1 | DOID:0111008 |
OMIM:304020 |
J:61371 |