Ryr2^tm3.1Amks

Exon 47 was replaced with a self-excising neomycin resistance cassette and a modified exon 47 in which nucleotide substitution(s) results(s) in the amino acid susbtitution of isoleucine for asparagine at position 2386 (N2386I), mimicking a mutation found in some catecholaminergic polymorphic ventricular tachycardia (CPVT) patients. This mutation results in a leaky channel. The final allele lacks the selection cassette. (J:212640)