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Phenotypes Associated with This Genotype
Genotype
MGI:3771806
Allelic
Composition
Rpe65tm1Lrcb/Rpe65tm1Lrcb
Genetic
Background
129S6/SvEvTac-Rpe65tm1Lrcb
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rpe65tm1Lrcb mutation (0 available); any Rpe65 mutation (52 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• levels of rhodopsin within the outer segments are 6% that of wild-type mice
• occurs in mice by one year of age
• is apparent in mice 4 weeks of age
• outer segment layer shortens as mice age with differences visible by 12 weeks of age
• mice show better preservation of the OS compared to Rpe65tm1Tmr homozygotes
• lipid-like inclusions form in the RPE of mice by 8 weeks of age
• occurs as mice age with the thickness being half that of wild-type mice by one year of age
• light sensitivity in 8 week old mice is reduced by about 2.5 log units as measured by the luminance required to generate a half-maximal b-wave under scotopic conditions
• b-wave amplitude generated by light exposure decreases between 12 and 24 weeks of age
• rhodopsin regeneration in light-bleached retinas is slower and reaches a plateau at about half the maximal level of non-bleached, dark-adapted mice

pigmentation
• lipid-like inclusions form in the RPE of mice by 8 weeks of age

homeostasis/metabolism
• 11-cis-retinal levels are reduced by 94 to 97% in dark adapted retinas as compared to age matched controls
• retinyl esters accumulate in the eye at a rate of 13 pmol/day until the increases stop at 24 weeks of age

nervous system
• levels of rhodopsin within the outer segments are 6% that of wild-type mice
• occurs in mice by one year of age
• is apparent in mice 4 weeks of age
• outer segment layer shortens as mice age with differences visible by 12 weeks of age
• mice show better preservation of the OS compared to Rpe65tm1Tmr homozygotes

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
retinitis pigmentosa 20 DOID:0110353 OMIM:613794
J:130076


Contributing Projects:
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
The Jackson Laboratory