Crb1^rd8
Spontaneous Allele Detail

Summary

• Symbol: Crb1^rd8
• Name: crumbs family member 1, photoreceptor morphogenesis associated; retinal degeneration 8
• MGI ID: MGI:2676366
• Synonyms: Crb1^6N, nmf144, Rd8^-
• Gene: Crb1 Location: Chr1:139124794-139304838 bp, - strand Genetic Position: Chr1, 60.87 cM
• Alliance: Crb1^rd8 page

Mutation origin

• Strain of Origin: C57BL/6By or C57BL/6N

Mutation description

• Allele Type: Spontaneous
• Mutation: Intragenic deletion
• Mutation details: The 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

Disease models

Expression

In Structures Affected by this Mutation:

6 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 18 strains available Cell Lines: 0 lines available
• Carrying any Crb1 Mutation: 92 strains or lines available

References

• 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: 77 reference(s)