| Primary Identifier | MGI:6682022 | Allele Type | Endonuclease-mediated |
| Attribute String | Humanized sequence | Gene | Ryr2 |
| Strain of Origin | C57BL/6 | Is Recombinase | false |
| Is Wild Type | false |
| molecularNote | CRISPR/Cas9 technology generated an AT to CC mutation in exon 96 resulting in an aspartate to alanine substitution at amino acid 4646 (p.D4646A) using gRNA 5'-GGTCATTTCCCAATAACTACTGG-3'. This is one of the human loss of function mutations that underlie an unknown disease that has been newly termed RyR2 calcium-release deficiency syndrome (CRDS). |
