Analysis Tools
vision/eye
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• moderate cone loss in the outer segment by 5 months of age
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• by 3 weeks of age S-opsin immunostaining of the retina is decreased, by 5 weeks of age PNA staining of retinal sections shows decreased cone densities outside the superior hemisphere, primarily in the nasal inferior quadrant, consistent with loss of S-cones, and by 10 weeks of age no S-opsin staining is found
• at 3 weeks of age staining intensity and localization of M-opsin is normal in immunohistochemistry of retinal sections, but by 10 weeks of age M-opsin is found mislocalized to cone inner segments, nuclei, and synaptic termini
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• at 5.5 months of age rod-mediated ERG responses at 0.43 log cd-s per m2 are lower than that of C57BL/6J controls
• light-adapted single stimulus ERG at either 1.08 or 0.65 log cd-s/m2 at 5 weeks of age gave no b-wave, consistent with retinal cone cell degeneration
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• optomoter behavioral analysis shows decreased visual acuities of 0.273 cycles per degree at 5.5 months of age
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• contrast sensitivities tested at a spatial frequency of 0.256 cycles/degree at 5.5 months of age are decreased relative to C57BL/6J controls
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nervous system
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• moderate cone loss in the outer segment by 5 months of age
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• by 3 weeks of age S-opsin immunostaining of the retina is decreased, by 5 weeks of age PNA staining of retinal sections shows decreased cone densities outside the superior hemisphere, primarily in the nasal inferior quadrant, consistent with loss of S-cones, and by 10 weeks of age no S-opsin staining is found
• at 3 weeks of age staining intensity and localization of M-opsin is normal in immunohistochemistry of retinal sections, but by 10 weeks of age M-opsin is found mislocalized to cone inner segments, nuclei, and synaptic termini
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| achromatopsia 2 | DOID:0110007 |
OMIM:216900 |
J:187090 | |
