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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Crb1rd8
retinal degeneration 8
MGI:2676366
Summary 5 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Crb1rd8/Crb1rd8 B6.Cg-Crb1rd8 MGI:3720010
hm2
Crb1rd8/Crb1rd8 involves: C3HfB6/Ga * C57BL/6 * CAST/EiJ MGI:3720009
hm3
Crb1rd8/Crb1rd8 involves: C57BL/6N MGI:5315452
hm4
Crb1rd8/Crb1rd8 STOCK Crb1rd8/J MGI:3581037
ht5
Crb1rd8+em1Mvw/Crb1rd8 C57BL/6NJ-Crb1rd8+em1Mvw MGI:5552735


Genotype
MGI:3720010
hm1
Allelic
Composition
Crb1rd8/Crb1rd8
Genetic
Background
B6.Cg-Crb1rd8
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Crb1rd8 mutation (9 available); any Crb1 mutation (36 available)
phenotype observed in females
phenotype observed in males
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




Genotype
MGI:3720009
hm2
Allelic
Composition
Crb1rd8/Crb1rd8
Genetic
Background
involves: C3HfB6/Ga * C57BL/6 * CAST/EiJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Crb1rd8 mutation (9 available); any Crb1 mutation (36 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• Background Sensitivity: 19% of mice do not display the spotting phenotype on a CAST/EiJ mixed background




Genotype
MGI:5315452
hm3
Allelic
Composition
Crb1rd8/Crb1rd8
Genetic
Background
involves: C57BL/6N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Crb1rd8 mutation (9 available); any Crb1 mutation (36 available)
phenotype observed in females
phenotype observed in males
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




Genotype
MGI:3581037
hm4
Allelic
Composition
Crb1rd8/Crb1rd8
Genetic
Background
STOCK Crb1rd8/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Crb1rd8 mutation (9 available); any Crb1 mutation (36 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
OMIM ID Ref(s)
Leber Congenital Amaurosis 8; LCA8 613835 J:171736




Genotype
MGI:5552735
ht5
Allelic
Composition
Crb1rd8+em1Mvw/Crb1rd8
Genetic
Background
C57BL/6NJ-Crb1rd8+em1Mvw
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Crb1rd8 mutation (9 available); any Crb1 mutation (36 available)
Crb1rd8+em1Mvw mutation (1 available); any Crb1 mutation (36 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
N
• this allele corrects the phenotype observed in mice carrying Crb1rd8
• mice do not exhibit ELM fragmentation, outer retinal dysplasia or altered F-actin structures





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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/27/2016
MGI 6.05
The Jackson Laboratory