Primary Identifier | MGI:3511348 | Allele Type | Chemically induced (ENU) |
Gene | Rpgrip1 | Inheritance Mode | Recessive |
Strain of Origin | C57BL/6J | Is Recombinase | false |
Is Wild Type | false |
molecularNote | ENU mutagenesis induced an A to T transversion in the intron 6 splice acceptor. This mutation leads to a frame shift and an in-frame 32 amino acid insertion before generating a premature termination codon. The absence of protein expression was confirmed by western blot analysis on retinal extracts. |