Mouse Genome Informatics
hm1
    Crb1rd8/Crb1rd8
B6.Cg-Crb1rd8
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
vision/eye
N
• Background Sensitivity: mice no longer display the spotting phenotype when backcrossed from a CAST/EiJ background onto a C57BL/6 background (J:85459)


Mouse Genome Informatics
hm2
    Crb1rd8/Crb1rd8
involves: C3HfB6/Ga * C57BL/6 * CAST/EiJ
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
vision/eye
• Background Sensitivity: 19% of mice do not display the spotting phenotype on a CAST/EiJ mixed background


Mouse Genome Informatics
hm3
    Crb1rd8/Crb1rd8
involves: C57BL/6N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
vision/eye
• retinal pigment epithelium vacuolation
• nonimflammatory retinal degeneration is observed in the inner and outer nuclear layers, the outer plexiform layer and photoreceptor outer segments
• appearance of retinal lesions or spots is variable
• fundus lesions(spots) coalesce to form diffuse lesions or large patches and are visible by histological examination as early as 6 weeks of age

pigmentation
• retinal pigment epithelium vacuolation


Mouse Genome Informatics
hm4
    Crb1rd8/Crb1rd8
STOCK Crb1rd8/J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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
OMIM IDRef(s)
Leber Congenital Amaurosis 8; LCA8 613835 J:171736


Mouse Genome Informatics
ht5
    Crb1rd8+em1Mvw/Crb1rd8
C57BL/6NJ-Crb1rd8+em1Mvw
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
vision/eye
N
• this allele corrects the phenotype observed in mice carrying Crb1rd8 (J:206789)
• mice do not exhibit ELM fragmentation, outer retinal dysplasia or altered F-actin structures (J:206789)