Ryr1^tm3.1Alle
Targeted Allele Detail

Summary

• Symbol: Ryr1^tm3.1Alle
• Name: ryanodine receptor 1, skeletal muscle; targeted mutation 3.1, Paul D Allen
• MGI ID: MGI:6515829
• Synonyms: RYR1 pG2435R
• Gene: Ryr1 Location: Chr7:28702765-28824599 bp, - strand Genetic Position: Chr7, 16.94 cM, cytoband A2-B3
• Alliance: Ryr1^tm3.1Alle page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:303297
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: A glycine to arginine change was introduced at amino acid 2435 (p.G2435R) in exon 45 and a loxP-flanked neomycin cassette was inserted downstream of this exon. Cre-mediated recombination removed the selection cassette. The G2435R mutation corresponds to amino acid position 2434 in the human gene and this variant is frequently associated with malignant hyperthermia in UK patients. (J:303297)

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:303297 Lopez JR, et al., Malignant hyperthermia, environmental heat stress, and intracellular calcium dysregulation in a mouse model expressing the p.G2435R variant of RYR1. Br J Anaesth. 2018 Oct;121(4):953-961
• All: 3 reference(s)