Analysis Tools
vision/eye
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• retinas have slightly decreased cone numbers relative to controls
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• at 2 months of age, outer segment lengths are ~50-70% of normal
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• cone cell remnants are identified in the retina, but outer segments are absent
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• cone degeneration is most severe inferior to the optic nerve
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• complete lack of cGMP
• rods are surrounded by blebs in interphotoreceptor matrix
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• at 6 months of age, rod outer segments are severely reduced in superior/inferior and nasal/temporal quadrants
• in retina, rod outer segments are shorter and narrower than in wild-type, and appear banded by alternating regions of dense membrane layers and lumen-containing tubules
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• at 6 months of age, outer nuclear layer (ONL) contains only 4-6 rows of nuclei
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• scotopic electroretinographic responses are absent in all double homozygotes
• no detectable light-sensitive current is detectable in rods
• after exposure to high intensity light, followed by 1 hour of dark adaptation, a-wave amplitude recovery is completely absent in mutants compared to 70% recovery in wild-type
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nervous system
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• retinas have slightly decreased cone numbers relative to controls
|
|
|
• at 2 months of age, outer segment lengths are ~50-70% of normal
|
|
|
• cone cell remnants are identified in the retina, but outer segments are absent
|
|
|
• cone degeneration is most severe inferior to the optic nerve
|
|
|
• complete lack of cGMP
• rods are surrounded by blebs in interphotoreceptor matrix
|
|
|
• at 6 months of age, rod outer segments are severely reduced in superior/inferior and nasal/temporal quadrants
• in retina, rod outer segments are shorter and narrower than in wild-type, and appear banded by alternating regions of dense membrane layers and lumen-containing tubules
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Leber congenital amaurosis 1 | DOID:0110078 |
OMIM:204000 |
J:120903 | |
