| Primary Identifier | MGI:7782499 | Allele Type | Endonuclease-mediated |
| Attribute String | Humanized sequence | Gene | Cct2 |
| Strain of Origin | Not Specified | Is Recombinase | false |
| Is Wild Type | false |
| molecularNote | CRISPR/Cas9 technology generated a GA to AC change at position 1760-1761 (c.1760_1761delinsAC) resulting in an arginine to histidine substitution at amino acid 516 (p.R516H). In addition, a synonymous c.1764G>C mutation was generated to create a TaqI restriction enzyme site. Western blot analysis indicates a 60% decrease in protein in homozygotes. This is a missense mutation identified in individuals with Leber congenital amaurosis. |
