| Primary Identifier | MGI:6718878 | Allele Type | Targeted |
| Attribute String | Humanized sequence | Gene | Prrt2 |
| Transmission | Germline | Strain of Origin | Not Specified |
| Is Recombinase | false | Is Wild Type | false |
| molecularNote | A PGK-neo 3x stop cassette flanked by loxP sites was inserted upstream of the initiation codon. From initiation codon to 103 bp in intron 2 was replaced by the corresponding human PRRT2 cDNA with the c.649_650InsC mutation. This is a mutation found in patients with paroxysmal kinesigenic dyskinesia. Cre-mediated recombination removed the PGK-neo. Western blotting of brain tissues does not detect truncated protein in homozygotes. qPCR shows that level of truncated mRNA is decreased and the mRNA is unstable and shows a shortened half-life. |
