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Ryr2tm1Sgp
Targeted Allele Detail
Summary
Symbol: Ryr2tm1Sgp
Name: ryanodine receptor 2, cardiac; targeted mutation 1, Silvia G Priori
MGI ID: MGI:3641338
Synonyms: Ryr2R4496C
Gene: Ryr2  Location: Chr13:11567988-12121831 bp, - strand  Genetic Position: Chr13, 4.38 cM, cytoband A1-A2
Alliance: Ryr2tm1Sgp page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:109683
Parent Cell Line:  Other (see notes) (ES Cell)
Strain of Origin:  129/Sv
Mutation
description
Allele Type:    Targeted (Humanized sequence, Modified isoform(s))
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsA targeting vector was used to introduce an R4496C mutation into exon 94 of the locus. The mutation is the mouse equivalent to the R4497C mutations identified in CPVT families. LoxP sites were inserted to flank the exon. (J:109683)
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: 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
Notes
ES cell line = TVB2.
References
Original:  J:109683 Cerrone M, et al., Bidirectional ventricular tachycardia and fibrillation elicited in a knock-in mouse model carrier of a mutation in the cardiac ryanodine receptor. Circ Res. 2005 May 27;96(10):e77-82
All:  17 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
11/12/2024
MGI 6.24
The Jackson Laboratory