Analysis Tools|
Allele Symbol Allele Name Allele ID |
Gucy2ftm1Wbae targeted mutation 1, Wolfgang Baehr MGI:3709985 |
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| Summary |
2 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• a-wave amplitude and sensitivity of scotopic response are reduced at high flash stimulus intensities
• after exposure to high intensity light, followed by 1 hour of dark adaptation, a-wave amplitude recovery is delayed relative to wild-type, with only 50% recovery
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Abnormal rod outer segments in Gucy2etm1Gar/Gucy2etm1Gar Gucy2ftm1Wbae/Gucy2ftm1Wbae mice
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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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• 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
|
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• 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 | |
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 11/12/2024 MGI 6.24 |
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