Primary Identifier | MGI:6515829 | Allele Type | Targeted |
Attribute String | Humanized sequence | Gene | Ryr1 |
Transmission | Germline | Strain of Origin | 129 |
Is Recombinase | false | Is Wild Type | false |
molecularNote | A glycine to arginine change was introduced at amino acid 2435 (p.G2435R) in exon 45 and a loxP-flanked neomycin cassette was inserted downstream of this exon. Cre-mediated recombination removed the selection cassette. The G2435R mutation corresponds to amino acid position 2434 in the human gene and this variant is frequently associated with malignant hyperthermia in UK patients. |