Primary Identifier | MGI:3802940 | Allele Type | Targeted |
Attribute String | Humanized sequence | Gene | Ryr2 |
Transmission | Germline | Strain of Origin | (129X1/SvJ x 129S1/Sv)F1-Kitl<+> |
Is Recombinase | false | Is Wild Type | false |
molecularNote | Exon 49 was replaced with one in which nucleotide substitutions resulted in the amino acid substitution of serine for arginine at position 2474 (R2474S), mimicking a mutation found in some catecholaminergic polymorphic ventricular tachycardia (CPVT) patients, and a self-excising, floxed neo cassette was inserted downstream of exon 50. The neo cassette excised itself leaving a loxP site behind. |