Prrt2^{tm1(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. The presence of the PGK-neo and STOP cassette generates a null allele. Western blot analysis of cerebellum lysates confirmed absence of protein. (J:306987)