Ryr2^em1Swch

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). (J:302151)