Ryr2^tm2.1Swch
Targeted Allele Detail

Summary

• Symbol: Ryr2^tm2.1Swch
• Name: ryanodine receptor 2, cardiac; targeted mutation 2.1, S R Wayne Chen
• MGI ID: MGI:5605476
• Synonyms: E4872Q
• Gene: Ryr2 Location: Chr13:11567988-12121831 bp, - strand Genetic Position: Chr13, 4.38 cM, cytoband A1-A2
• Alliance: Ryr2^tm2.1Swch page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:214434
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Not Applicable)
• Mutations: Insertion, Single point mutation
• Mutation details: Exon 101 was replaced with a modified exon 101 containing an amino acid substitution of glutamine for glutamic acid at position 4872 (E4872Q). A FRT-flanked neo cassette was removed by flp-mediated recombination. (J:214434)

Expression

In Structures Affected by this Mutation:

2 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 Ryr2 Mutation: 325 strains or lines available

References

• Original: J:214434 Chen W, et al., The ryanodine receptor store-sensing gate controls Ca2+ waves and Ca2+-triggered arrhythmias. Nat Med. 2014 Feb;20(2):184-92
• All: 5 reference(s)