Analysis Tools
vision/eye
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• homozygotes display a a progressive degeneration of cone photoreceptors
• at 2 months, the number of cones is reduced to ~10-20% of wild-type number
• no cone photoreceptors are detected in homozygotes older than 8 months of age
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• in homozygotes, the disks of cone outer segments are partially disorganized
• in contrast, the disks of rod outer segments remain unaffected
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• homozygotes lack cone-mediated light response
• notably, mutant rod photoreceptors are both structurally and functionally intact ("pure rod function")
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• under dark-adapted (scotopic) conditions, the b-wave shows normal thresholds up to ~0.01 cds/m2 intensity; however, b-wave amplitudes of homozygotes do not increase further with flash intensity
• in contrast to the b-wave, the scotopic a-wave does not show any differences over the entire intensity range
• under light-adapted conditions of 30 cd/m2, homozygotes fail to show a perceivable cone response
• in scotopic ERGs induced by trains of flashes (flicker), a low stimulus intensity (0.01 cds/m2) causes a normal pure rod response
• at high stimulus intensity (3 cds/m2), the ERG response of homozygotes is less than normal, even at the lowest frequency; under these conditions the flicker fusion frequency is only ~10% of wild-type
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nervous system
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• homozygotes display a a progressive degeneration of cone photoreceptors
• at 2 months, the number of cones is reduced to ~10-20% of wild-type number
• no cone photoreceptors are detected in homozygotes older than 8 months of age
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• in homozygotes, the disks of cone outer segments are partially disorganized
• in contrast, the disks of rod outer segments remain unaffected
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| achromatopsia 2 | DOID:0110007 |
OMIM:216900 |
J:56020 | |
