Primary Identifier | MGI:5582510 | Allele Type | Targeted |
Attribute String | Humanized sequence | Gene | Ryr2 |
Transmission | Germline | Strain of Origin | Not Specified |
Is Recombinase | false | Is Wild Type | false |
molecularNote | 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. |