Ryr1^tm1.1Slh
Targeted Allele Detail

Summary

• Symbol: Ryr1^tm1.1Slh
• Name: ryanodine receptor 1, skeletal muscle; targeted mutation 1.1, Susan L Hamilton
• MGI ID: MGI:7620378
• Synonyms: Ryr1^I4895T, Ryr1^I4898T
• Gene: Ryr1 Location: Chr7:28702765-28824599 bp, - strand Genetic Position: Chr7, 16.94 cM, cytoband A2-B3
• Alliance: Ryr1^tm1.1Slh page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:244199
• Parent Cell Line: AB2.2 (ES Cell)
• Strain of Origin: 129S7/SvEvBrd-Hprt1^b-m2

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: Isoleucine codon 4895 (ATC) in exon 102 was changed to threonine (ACC) (p.I4895T) and a loxP site, a neomycin resistance gene cassette, a tetracycline resistance gene cassette, and a second loxP site were inserted into intron 102. The neo and tet cassettes were removed through subsequent Cre-mediated recombination. The mutation is the equivalent of the human p.I4898T mutation, one of the most common RYR1 mutations and associated with various myopathies. (J:244199)

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: 213 strains or lines available

References

• Original: J:244199 Lee CS, et al., A chemical chaperone improves muscle function in mice with a RyR1 mutation. Nat Commun. 2017 Mar 24;8:14659
• All: 2 reference(s)