Primary Identifier | MGI:2676366 | Allele Type | Spontaneous |
Gene | Crb1 | Inheritance Mode | Recessive |
Strain of Origin | C57BL/6By or C57BL/6N | Is Recombinase | false |
Is Wild Type | false |
molecularNote | 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. |