| Primary Identifier | MGI:6858081 | Allele Type | Endonuclease-mediated |
| Attribute String | Humanized sequence | Gene | Prrt2 |
| Strain of Origin | C57BL/6J | Is Recombinase | false |
| Is Wild Type | false |
| molecularNote | CRISPR/Cas9 technology inserted two stop codons (TAGTAA) into the C666 site in exon 2. This mimics the hot-spot mutation at the C649 site of human patients with paroxysmal kinesigenic dyskinesia. Normal levels of transcripts are seen in the brain, however complete loss of protein is seen, indicating a loss-of-function mutation. |
