| Primary Identifier | MGI:6120537 | Allele Type | Targeted |
| Gene | Synj1 | Transmission | Germline |
| Strain of Origin | (129S6/SvEvTac x C57BL/6J)F1 | Is Recombinase | false |
| Is Wild Type | false |
| description | ES cell line = G1 (129S6/SvEvTac x C57BL/6J)F1 |
| molecularNote | An arginine to glutamine substitution was introduced at position 259 (CGG > CAG) and an FRT flanked neo cassette was inserted 258bp downstream of exon 5 via homologous recombination. Flp-mediated recombination removed the neo cassette. The inserted mutation corresponds to the human R258Q mutation in early onset Parkinson patients. This mutation abolishes the phosphatase activity of the SAC domain in humans. |
