| Primary Identifier | MGI:5883865 | Allele Type | Targeted |
| Attribute String | Dominant negative, Humanized sequence | Gene | Rpe65 |
| Inheritance Mode | Dominant | Transmission | Germline |
| Strain of Origin | 129 x C57BL/6 | Is Recombinase | false |
| Is Wild Type | false |
| molecularNote | Exon 13 was targeted for an A to G mutation changing codon 477 from GAT to GGT which results in a D477G substitution in the translated peptide. An FRT site flanked neomycin resistance gene cassette was inserted in intron 13. This neo cassette was removed through subsequent flp-mediated recombination. The mutation created in this allele is the equivalent of a dominant negative mutation found in some human retinitis pigmentosa (RP) patients. Transcript levels from this allele are comparable to wild-type, but peptide levels are around half in heterozygotes and less than a quarter in homozygotes compared to wild-type. |
