Ryr1^tm1.1Inp
Targeted Allele Detail

Summary

• Symbol: Ryr1^tm1.1Inp
• Name: ryanodine receptor 1, skeletal muscle; targeted mutation 1.1, Isaac N Pessah
• MGI ID: MGI:5314364
• Synonyms: T4826I-RYR1
• Gene: Ryr1 Location: Chr7:28702765-28824599 bp, - strand Genetic Position: Chr7, 16.94 cM, cytoband A2-B3
• Alliance: Ryr1^tm1.1Inp page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:181904
• Parent Cell Line: W9.5/W95 (ES Cell)
• Strain of Origin: 129S1/Sv-Oca2⁺ Tyr⁺ Kitl⁺

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: Exon 10 was replaced with a modified exon 10 in which nucleotide substitution results in the amino acid substitution of isoleucine for threonine at position 4826 (T4826I). Cre-mediated recombination removed the floxed neo cassette inserted downstream of the modified exon 10. (J:181904)

Expression

In Structures Affected by this Mutation:

3 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 3 strains available Cell Lines: 0 lines available
• Carrying any Ryr1 Mutation: 214 strains or lines available

References

• Original: J:181904 Yuen B, et al., Mice expressing T4826I-RYR1 are viable but exhibit sex- and genotype-dependent susceptibility to malignant hyperthermia and muscle damage. FASEB J. 2012 Mar;26(3):1311-22
• All: 7 reference(s)