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Phenotypes Associated with This Genotype
Genotype
MGI:5924950
Allelic
Composition
Rpgrip1tvrm111/Rpgrip1tvrm111
Genetic
Background
C57BL/6J-Rpgrip1tvrm111/Pjn
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rpgrip1tvrm111 mutation (1 available); any Rpgrip1 mutation (14 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• fully mature photoreceptor outer segments form, but disorganized arrangement of the outer segment discs is seen at 14 days of age by transmission electron micrographs
• fundus images are normal at 1 month of age but at 6 months of age individual retinal pigment epithelial cells can be discerned
• the rate of retinal degeneration is slower than in nmf247 homozygotes and more like that of tm1Tili homozygotes with the outer nuclear layer reduced to 3 to 4 nuclei at 3 months of age
• by one month of age there is a decrease in both dark- and light-adapted ERG responses and this is more severe at 6 months of age

nervous system
• fully mature photoreceptor outer segments form, but disorganized arrangement of the outer segment discs is seen at 14 days of age by transmission electron micrographs

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Leber congenital amaurosis 6 DOID:0110329 OMIM:613826
J:243745


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
11/05/2019
MGI 6.14
The Jackson Laboratory