| Primary Identifier | MGI:7620378 | Allele Type | Targeted |
| Attribute String | Humanized sequence | Gene | Ryr1 |
| Transmission | Germline | Strain of Origin | 129S7/SvEvBrd-Hprt1<b-m2> |
| Is Recombinase | false | Is Wild Type | false |
| molecularNote | Isoleucine codon 4895 (ATC) in exon 102 was changed to threonine (ACC) (p.I4895T) and a loxP site, a neomycin resistance gene cassette, a tetracycline resistance gene cassette, and a second loxP site were inserted into intron 102. The neo and tet cassettes were removed through subsequent Cre-mediated recombination. The mutation is the equivalent of the human p.I4898T mutation, one of the most common RYR1 mutations and associated with various myopathies. |
