Prrt2^{tm1.1(PRRT2*)Xjl}

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. (J:306987)