Ryr2^em1Swch
Endonuclease-mediated Allele Detail

Summary

• Symbol: Ryr2^em1Swch
• Name: ryanodine receptor 2, cardiac; endonuclease-mediated mutation 1, S R Wayne Chen
• MGI ID: MGI:6682022
• Synonyms: RyR2-D4646A^-
• Gene: Ryr2 Location: Chr13:11567988-12121831 bp, - strand Genetic Position: Chr13, 4.38 cM, cytoband A1-A2
• Alliance: Ryr2^em1Swch page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: 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)

Disease models

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Ryr2 Mutation: 325 strains or lines available

References

• Original: J:302151 Sun B, et al., Cardiac ryanodine receptor calcium release deficiency syndrome. Sci Transl Med. 2021 Feb 3;13(579)
• All: 1 reference(s)