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Phenotypes Associated with This Genotype
Genotype
MGI:4950566
Allelic
Composition
Prpf8tm1.1Eap/Prpf8tm1.1Eap
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prpf8tm1.1Eap mutation (0 available); any Prpf8 mutation (88 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
N
• no differences in eye electrophysiology or signs of photoreceptor degeneration are detected in mice at up to 24 months of age
• loss of the basal infoldings and accumulation of amorphous deposits between the RPE and Bruch's membrane are seen at 24 months of age
• vacuoles are present in the RPE at 24 months of age
• changes in the RPE are more severe in homozygous mice compared to heterozygous mice
• late onset degeneration of the retinal pigment epithelium

pigmentation
• loss of the basal infoldings and accumulation of amorphous deposits between the RPE and Bruch's membrane are seen at 24 months of age
• vacuoles are present in the RPE at 24 months of age
• changes in the RPE are more severe in homozygous mice compared to heterozygous mice

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
retinitis pigmentosa 13 DOID:0110403 OMIM:600059
J:171561


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