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Spontaneous Allele Detail
Symbol: Crb1rd8
Name: crumbs family member 1, photoreceptor morphogenesis associated; retinal degeneration 8
MGI ID: MGI:2676366
Synonyms: Crb16N, nmf144, Rd8-
Gene: Crb1  Location: Chr1:139124794-139304838 bp, - strand  Genetic Position: Chr1, 60.87 cM
Strain of Origin:  C57BL/6By or C57BL/6N
Allele Type:    Spontaneous
Mutation:    Intragenic deletion
Mutation detailsThe mutation in the rd8 mouse has been identified as a single base deletion of a C (G on forward strand) at coding nucleotide 3481 in the gene. This deletion causes a frame shift and a premature stop codon that truncates the transmembrane and cytoplasmic domain of the protein after amino acid 1207. This mutation has been found to be present in all sublines of C57BL/6N and in C57BL/6ByJ, but not in any C57BL/6J subline. It occurred sometime between transfer of mice from JAX to NIH, in 1951, and from NIH to Donald Bailey, in 1961. (J:85459, J:182353)
Inheritance:    Recessive
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 6 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 17 strains available      Cell Lines: 0 lines available
Carrying any Crb1 Mutation:  67 strains or lines available
Original:  J:85459 Mehalow AK, et al., CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retina. Hum Mol Genet. 2003 Sep 1;12(17):2179-89
All:  68 reference(s)

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
MGI 6.20
The Jackson Laboratory