Ryr2^tm3.1Hhv
Targeted Allele Detail

Summary

• Symbol: Ryr2^tm3.1Hhv
• Name: ryanodine receptor 2, cardiac; targeted mutation 3.1, Hector H Valdivia
• MGI ID: MGI:5750602
• Synonyms: RyR2-A4860G
• Gene: Ryr2 Location: Chr13:11567988-12121831 bp, - strand Genetic Position: Chr13, 4.38 cM, cytoband A1-A2
• Alliance: Ryr2^tm3.1Hhv page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:220671
• Parent Cell Line: AB2.2 (ES Cell)
• Strain of Origin: 129S7/SvEvBrd-Hprt1^b-m2

Mutation description

• Allele Type: Targeted (Hypomorph)
• Mutation: Insertion
• Mutation details: An A4860G mutation and loxP flanked neo cassette were inserted via homologous recombination. Cre mediated recombination removed the neo cassette. This mutation depresses channel activity. (J:220671)

Disease models

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:220671 Zhao YT, et al., Arrhythmogenesis in a catecholaminergic polymorphic ventricular tachycardia mutation that depresses ryanodine receptor function. Proc Natl Acad Sci U S A. 2015 Mar 31;112(13):E1669-77
• All: 3 reference(s)