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Phenotypes Associated with This Genotype
Genotype
MGI:6189553
Allelic
Composition
Reep6em1Ruch/Reep6em1Ruch
Genetic
Background
involves: C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Reep6em1Ruch mutation (0 available); any Reep6 mutation (13 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• overall retinal layer organization appears normal at P20 but by 6 months of age, severe alterations in the inner segment of the retina are seen
• overall retinal layer organization appears normal at P20 but by 6 months of age, severe alterations in the outer segment of the retina are seen
• progressive photoreceptor degeneration
• mice exhibit progressive thinning of the outer nuclear layer and reduced rows of nuclei from 4 to 6 months of age
• photopic ERG recordings of 4 month old mice show both a-wave and b-wave reduction, indicating rod photoreceptor dysfunction, that is further reduced at 6 months
• photopic ERG recordings of 4 month old mice show both a-wave and b-wave reduction, indicating rod photoreceptor dysfunction, that is further reduced at 6 months
• dysfunction of the rod photoreceptors

nervous system
• overall retinal layer organization appears normal at P20 but by 6 months of age, severe alterations in the inner segment of the retina are seen
• overall retinal layer organization appears normal at P20 but by 6 months of age, severe alterations in the outer segment of the retina are seen
• progressive photoreceptor degeneration

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
retinitis pigmentosa 77 DOID:0080350 OMIM:617304
J:248574


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
03/24/2020
MGI 6.15
The Jackson Laboratory