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Ryr2tm1.1Swch
Targeted Allele Detail
Summary
Symbol: Ryr2tm1.1Swch
Name: ryanodine receptor 2, cardiac; targeted mutation 1.1, S R Wayne Chen
MGI ID: MGI:5285537
Synonyms: R4496C
Gene: Ryr2  Location: Chr13:11567988-12121831 bp, - strand  Genetic Position: Chr13, 4.38 cM, cytoband A1-A2
Alliance: Ryr2tm1.1Swch page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:174541
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Mutation
description
Allele Type:    Targeted (Not Applicable)
Mutations:    Insertion, Single point mutation
 
Mutation detailsExon 92 was replaced with a modified exon 92 in which a C to T transition results in the amino acid substitution of cysteine for arginine at position 4496 (R4496C). An FRT-flanked neo cassette was removed by flp-mediated recombination. (J:174541)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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:174541 Zhou Q, et al., Carvedilol and its new analogs suppress arrhythmogenic store overload-induced Ca(2+) release. Nat Med. 2011;17(8):1003-1009
All:  8 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
04/23/2024
MGI 6.23
The Jackson Laboratory