| Primary Identifier | MGI:1856373 | Allele Type | Spontaneous |
| Gene | Pde6b | Inheritance Mode | Recessive |
| Strain of Origin | various | Is Recombinase | false |
| Is Wild Type | false |
| description | The following inbred strains are known to be homozygous for Pde6b |
| molecularNote | Two mutations have been identified in rd1 mice. A murine leukimia virus (Xmv-28) insertion in reverse orientation in intron 1 is found in all mouse strains with the rd1 phenotype. Further, a nonsense mutation (C-to-A transversion) in codon 347 that results in a truncation eliminating more than half of the predicted encoded protein, including the catalytic domain, has been identified in all rd1 strains of mice. A specific degradation of mutant transcript during or after pre-mRNA splicing is suggested. |
