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Phenotypes Associated with This Genotype
Genotype
MGI:4950564
Allelic
Composition
Prpf3tm1.1Eap/Prpf3tm1.1Eap
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prpf3tm1.1Eap mutation (0 available); any Prpf3 mutation (19 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
N
• no 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
• at 24 months of age, the maximal rod a wave is significantly reduced

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
OMIM ID Ref(s)
Retinitis Pigmentosa 18; RP18 601414 J:171561


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/17/2016
MGI 6.03
The Jackson Laboratory