Ryr1^tm2.1Itl
Targeted Allele Detail

Summary

• Symbol: Ryr1^tm2.1Itl
• Name: ryanodine receptor 1, skeletal muscle; targeted mutation 2.1, inGenious Targeting Laboratory
• MGI ID: MGI:5544310
• Synonyms: RyR1-S2844A
• Gene: Ryr1 Location: Chr7:28702765-28824599 bp, - strand Genetic Position: Chr7, 16.94 cM, cytoband A2-B3
• Alliance: Ryr1^tm2.1Itl page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:205099
• Parent Cell Line: iTL BA1 (ES Cell)
• Strain of Origin: (C57BL/6NTac x 129S6/SvEvTac)F1

Mutation description

• Allele Type: Targeted
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: Nucleotide substitution(s) result(s) in the amino acid substitution of alanine for serine at position 2844 (S2844A). This amino acid substitution blocks phosphorylation at this site. Cre-mediated recombination removed the floxed neomycin resistance cassette. (J:205099)

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:205099 Andersson DC, et al., Stress-induced increase in skeletal muscle force requires protein kinase A phosphorylation of the ryanodine receptor. J Physiol. 2012 Dec 15;590(Pt 24):6381-7
• All: 1 reference(s)