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Ryr2tm3.1Hhv
Targeted Allele Detail
Nomenclature
Symbol: Ryr2tm3.1Hhv
Name: ryanodine receptor 2, cardiac; targeted mutation 3.1, Hector H Valdivia
MGI ID: MGI:5750602
Synonyms: RyR2-A4860G
Gene: Ryr2  Location: Chr13:11553102-12106945 bp, - strand  Genetic Position: Chr13, 4.38 cM, cytoband A1-A2
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:220671
Parent Cell Line:  AB2.2 (ES Cell)
Strain of Origin:  129S7/SvEvBrd-Hprtb-m2
Mutation
description
Allele Type:    Targeted (Hypomorph)
Mutation:    Insertion
 
Mutation detailsAn 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)
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:  39 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
08/13/2019
MGI 6.14
The Jackson Laboratory