vision/eye
• slowly progressive retinal degeneration, showing progressive rod-cone dystrophy
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• trafficking of PDE6 and GRK1 to cone outer segments is defective
• however, localization of transmembrane proteins ML-opsin, S-opsin, rhodopsin, and GC1 in the outer segments is normal
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• both rod and cone photoreceptors of mice at 6 months of age suffer severe vision loss as indicated by ERG recordings
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• scotopic a-wave amplitude is reduced as early as 1 month of age
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• photoptic b-wave amplitudes show a delay in return to the baseline
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• photopic b-wave amplitude is reduced as early as 1 month of age
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• vision loss is seen in 6 month old mice
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
retinitis pigmentosa 2 | DOID:0110415 |
OMIM:312600 |
J:219642 |