| Primary Identifier | MGI:3038638 | Allele Type | Chemically induced (ENU) |
| Gene | Prph2 | Inheritance Mode | Dominant |
| Strain of Origin | C57BL/6J | Is Recombinase | false |
| Is Wild Type | false |
| molecularNote | This phenotypic mutant was identified in an ENU mutagenesis screen. A T-to-A mutation was identified in the exon 1 splice donor site leading to the inappropriate use of a downstream splice donor site. 25 extra nucleotides were included in the mRNA before splicing to the proper splice acceptor site in exon 2. This resulted in a frameshift and the incorporation of 49 missense amino acids before premature truncation of the protein occurred. In homozygote mice, no full-length or truncated protein was detected in retinal extracts. Heterozygote mice had a significant reduction of full-length protein in their retinas compared to wild-type controls. |
