Ryr2^tm1Slh
Targeted Allele Detail

Summary

• Symbol: Ryr2^tm1Slh
• Name: ryanodine receptor 2, cardiac; targeted mutation 1, Susan L Hamilton
• MGI ID: MGI:3665257
• Synonyms: Ryr2^R176Q
• Gene: Ryr2 Location: Chr13:11567988-12121831 bp, - strand Genetic Position: Chr13, 4.38 cM, cytoband A1-A2
• Alliance: Ryr2^tm1Slh page

Ryr2^tm1Slh/Ryr⁺ MRI heart images

Show the 1 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:111780
• Parent Cell Line: AB2.2 (ES Cell)
• Strain of Origin: 129S7/SvEvBrd-Hprt1^b-m2

Mutation description

• Allele Type: Targeted
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: The R176Q mutation, along with a new RsrII restriction site, was introduced into exon 8. A cassette containing a loxP-flanked NeoR gene expressed from the phosphoglycerate kinase promoter (PGK-NeoR) and a TetR gene was cloned in the unique BlpI site from intron 8. The loxP-flanked neomycin selection cassette was removed by Cre-mediated recombination in the final allele. (J:111780)

Disease models

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: 0 strains available Cell Lines: 0 lines available
• Carrying any Ryr2 Mutation: 325 strains or lines available

References

• Original: J:111780 Kannankeril PJ, et al., Mice with the R176Q cardiac ryanodine receptor mutation exhibit catecholamine-induced ventricular tachycardia and cardiomyopathy. Proc Natl Acad Sci U S A. 2006 Aug 8;103(32):12179-84
• All: 9 reference(s)