Primary Identifier | MGI:4442645 | Allele Type | Targeted |
Attribute String | Humanized sequence | Gene | Ryr2 |
Transmission | Germline | Strain of Origin | C57BL/6J |
Is Recombinase | false | Is Wild Type | false |
molecularNote | Exon 49 was replaced with one in which nucleotide substitutions result in the amino acid substitution of arginine with serine at position 2473 in the encoded peptide (p.R2473S), mimicking a mutation found in some catecholaminergic polymorphic ventricular tachycardia (CPVT) patients. The floxed neomycin resistance gene cassette that was inserted into intron 48 was removed by cre-mediated recombination, leaving a single loxP site. |