Ryr2^tm2.1Wex
Targeted Allele Detail

Summary

• Symbol: Ryr2^tm2.1Wex
• Name: ryanodine receptor 2, cardiac; targeted mutation 2.1, Xander Wehrens
• MGI ID: MGI:5571850
• Synonyms: RyR2-S2814D
• Gene: Ryr2 Location: Chr13:11567988-12121831 bp, - strand Genetic Position: Chr13, 4.38 cM, cytoband A1-A2
• Alliance: Ryr2^tm2.1Wex page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:179475
• Parent Cell Line: AB2.2 (ES Cell)
• Strain of Origin: 129S7/SvEvBrd-Hprt1^b-m2

Mutation description

• Allele Type: Targeted (Constitutively active)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: Exon 56 was replaced with one containing nucleotide substitutions that result in the amino acid substitution of aspartic acid for serine at position 2814 (S2814D). This mutation produces a constitutively active protein. The modified exon was followed by a floxed neo cassette that was removed by subsequent cre-mediated recombination. (J:179475)

Expression

In Structures Affected by this Mutation:

4 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:179475 van Oort RJ, et al., Ryanodine receptor phosphorylation by calcium/calmodulin-dependent protein kinase II promotes life-threatening ventricular arrhythmias in mice with heart failure. Circulation. 2010 Dec 21;122(25):2669-79
• All: 8 reference(s)