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Ryr2tm1Slh
Targeted Allele Detail
Nomenclature
Symbol: Ryr2tm1Slh
Name: ryanodine receptor 2, cardiac; targeted mutation 1, Susan L Hamilton
MGI ID: MGI:3665257
Synonyms: Ryr2R176Q
Gene: Ryr2  Location: Chr13:11553102-12106945 bp, - strand  Genetic Position: Chr13, 4.38 cM, cytoband A1-A2
Ryr2tm1Slh/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-Hprtb-m2
Mutation
description
Allele Type:    Targeted
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsThe 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 1 anatomical structures
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:  199 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:  4 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/12/2018
MGI 6.12
The Jackson Laboratory