Ryr1^em1Tmur
Endonuclease-mediated Allele Detail

Summary

• Symbol: Ryr1^em1Tmur
• Name: ryanodine receptor 1, skeletal muscle; endonuclease-mediated mutation 1, Takashi Murayama
• MGI ID: MGI:7258399
• Gene: Ryr1 Location: Chr7:28702765-28824599 bp, - strand Genetic Position: Chr7, 16.94 cM, cytoband A2-B3
• Alliance: Ryr1^em1Tmur page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/Cas9 technology generated a CGA to TGC codon change resulting in an arginine to cysteine substitution at residue 2509 (p.R2509C). This corresponds to the p.R2508C mutation in humans with malignant hyperthermia. (J:322211)

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 Ryr1 Mutation: 214 strains or lines available

References

• Original: J:322211 Yamazawa T, et al., A novel RyR1-selective inhibitor prevents and rescues sudden death in mouse models of malignant hyperthermia and heat stroke. Nat Commun. 2021 Jul 13;12(1):4293
• All: 1 reference(s)