Analysis Tools|
Allele Symbol Allele Name Allele ID |
Rpe65tm1Tmr targeted mutation 1, T Michael Redmond MGI:2181399 |
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| Summary |
5 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• Background Sensitivity: retinal white spots are not found in the segregating B6;129 background but are found by 3 months of age in this C57BL/6J congenial background, similar to what is found in mice homozygous for the rd12 allele of Rpe65.
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• rod outer segments decrease in length
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• rapid degeneration of cone photoreceptors, with M/L-opsin almost completely absent at P28 and S-opsin totally absent at P42
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• slow rod photoreceptor degeneration
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• rod outer segments decrease in length
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• rapid degeneration of cone photoreceptors, with M/L-opsin almost completely absent at P28 and S-opsin totally absent at P42
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• slow rod photoreceptor degeneration
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Leber congenital amaurosis 2 | DOID:0110016 |
OMIM:204100 |
J:136882 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• occurs in mice by one year of age
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• outer segment disks are less densely packed or less abundant at 7 weeks
• by 15 weeks length of outer segment is also reduced and lack of density of disks is more obvious
• lipid inclusions can be seen by 15 weeks
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• is apparent in mice 4 weeks of age
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• outer segment layer shortens as mice age with differences visible by 12 weeks of age
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• number of rods declines 50% with age between 1 and 18 months
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• lipid-like inclusions form in the RPE of mice by 8 weeks of age
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• at 15 weeks the outer nuclear layer is reduced from 10-11 layers to 8-9 layers of nuclei
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• occurs as mice age with the thickness being half that of wild-type mice by one year of age
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• dark adapted retina lacks extractable rhodopsin
(J:51293)
• photoreceptors are protected against light induced apoptosis
(J:61889)
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• very reduced dark adapted electroretinogram
(J:51293)
• continue to respond to high intensity light
(J:51293)
• rod system rather than cones responsible for vision
(J:71529)
• rods mimic cone function
(J:71529)
• baseline circulating current of rods is much smaller than in controls
(J:85796)
• lower mean maximum response to light stimulus
(J:85796)
• sensitivity to light reduced
(J:85796)
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• occurs in mice by one year of age
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• outer segment disks are less densely packed or less abundant at 7 weeks
• by 15 weeks length of outer segment is also reduced and lack of density of disks is more obvious
• lipid inclusions can be seen by 15 weeks
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• is apparent in mice 4 weeks of age
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• outer segment layer shortens as mice age with differences visible by 12 weeks of age
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• number of rods declines 50% with age between 1 and 18 months
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• 11-cis-retinal levels are undetectable in the retinas of dark-adapted mice
• retinyl esters accumulate in the eye at a rate of 9 pmol/day through at least 40 weeks of age
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• lipid-like inclusions form in the RPE of mice by 8 weeks of age
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Leber congenital amaurosis 2 | DOID:0110016 |
OMIM:204100 |
J:51293 , J:61889 , J:71529 , J:81027 , J:85796 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• at 3 to 4 months, retinyl ester accumulation is 70% of the accumulation observed in Rpe65tm1Tmr homozygotes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• at stimuli ranging from 0.0001 to 25 cds/m2, scotopic single-flash ERGs of double homozygotes are almost identical to those of Rpe65tm1Tmr single mutants, indicating that rods are responsible for the light responses in Rpe65tm1Tmr mutants
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Leber congenital amaurosis 2 | DOID:0110016 |
OMIM:204100 |
J:71529 | |
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 12/10/2024 MGI 6.24 |
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