vision/eye
• number of cones is reduced in the inner and outer segment, with 30% loss of cones in the retina, and significant loss in the dorsotemporal, ventronasal, and ventrotemporal areas
• however, no changes are seen in cell number or morphology of rod-bipolar cells
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• 20% reduction in the outer nuclear layer (ONL) thickness and number of nuclei at 7 months of age
• however, thinning of the inner nuclear layer is insignificant
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• ERG shows reduced scotopic and photopic b-wave amplitude in 7-month-old mice
• 25% reduction in scotopic b-wave amplitude at maximum stimulus intensity
• 40% reduction in photopic b-wave amplitude at maximum stimulus, indicating dysfunctional cones
• however, scotopic a-wave ERGs show a normal response of rod photoreceptors, indicating largely normal rod photoreceptor activity
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• 40% reduction in photopic b-wave amplitude at maximum stimulus, indicating dysfunctional cones
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nervous system
• number of cones is reduced in the inner and outer segment, with 30% loss of cones in the retina, and significant loss in the dorsotemporal, ventronasal, and ventrotemporal areas
• however, no changes are seen in cell number or morphology of rod-bipolar cells
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reproductive system
N |
• males are fertile
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
cone-rod dystrophy | DOID:0050572 | J:307901 |