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Phenotypes Associated with This Genotype
Genotype
MGI:3581037
Allelic
Composition
Crb1rd8/Crb1rd8
Genetic
Background
STOCK Crb1rd8/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Crb1rd8 mutation (10 available); any Crb1 mutation (44 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• mice exhibit large, irregularly shaped spots concentrated in the inferior nasal quadrant of the fundus as early as week 3 that correspond to retinal folds and pseudorosettes
• retinal thinning in both the inner and outer segment is observed
• Muller cells exhibit increased electron density and cytoplasmic strands that are more easily traced through the plexiform layer than in wild-type mice
• the photoreceptor lamellae breaks down
• in the region of focal degeneration photoreceptors are lost
• the photoreceptor inner segments lose their orderly arrangement
• by 5 months the inner segment approaches the retinal pigment epithelium
• swelling occurs in portions of the inner segments
• at 4 weeks the photoreceptor inner segments are 25% shorter
• by week 10 the outer segment begins to fragment
• by 5 months only a few outer segment fragments remain
• the photoreceptor outer segments are shortened
• the external limiting membrane in the retina is fragmented and disorganized at 2 weeks and is more severe at 4 weeks
• in older mice, the retinal outer nuclear layer is reduced to a single row of nuclei

nervous system
• Muller cells exhibit increased electron density and cytoplasmic strands that are more easily traced through the plexiform layer than in wild-type mice
• the photoreceptor lamellae breaks down
• in the region of focal degeneration photoreceptors are lost
• the photoreceptor inner segments lose their orderly arrangement
• by 5 months the inner segment approaches the retinal pigment epithelium
• swelling occurs in portions of the inner segments
• at 4 weeks the photoreceptor inner segments are 25% shorter
• by week 10 the outer segment begins to fragment
• by 5 months only a few outer segment fragments remain
• the photoreceptor outer segments are shortened

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Leber congenital amaurosis 8 DOID:0110079 OMIM:613835
J:171736


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
09/12/2017
MGI 6.10
The Jackson Laboratory