Ryr2^em1Swch

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Species

Mus musculus

Symbol

Ryr2^em1Swch

Category

allele

Allele of gene

Ryr2

Transgenic Constructs

None

Synonyms

• RyR2-D4646A^-

Description

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).

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations