vision/eye
• by 2 months of age, the inner segments of the retina are shortened
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• by 2 months of age, the outer segments of the retina are shortened
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• outer segments are disorganized with disruption of the conventional parallel arrangement of disc membranes and poorly defined outer segment morphologies; perimeters are undefined and disc diameters are greatly expanded
• stacks of disc membranes are occasionally arranged parallel to the long axis of the outer segments instead of the normal perpendicular orientation
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• cone opsins show mislocalization in the inner segment, perinuclear regions and synaptic terminals
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• photoreceptor cell loss is seen by 2 months of age
• retinal cell degeneration is rapid with complete loss of photoreceptors by 8 months of age
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• by 2 months of age, mutants show a decrease in the number of nuclei in the outer nuclear layer
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nervous system
• by 2 months of age, the inner segments of the retina are shortened
|
• by 2 months of age, the outer segments of the retina are shortened
|
• outer segments are disorganized with disruption of the conventional parallel arrangement of disc membranes and poorly defined outer segment morphologies; perimeters are undefined and disc diameters are greatly expanded
• stacks of disc membranes are occasionally arranged parallel to the long axis of the outer segments instead of the normal perpendicular orientation
|
• cone opsins show mislocalization in the inner segment, perinuclear regions and synaptic terminals
|
• photoreceptor cell loss is seen by 2 months of age
• retinal cell degeneration is rapid with complete loss of photoreceptors by 8 months of age
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
retinitis pigmentosa 3 | DOID:0110414 |
OMIM:300029 |
J:181417 |