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Ryr2tm1.1Maya
Targeted Allele Detail
Nomenclature
Symbol: Ryr2tm1.1Maya
Name: ryanodine receptor 2, cardiac; targeted mutation 1.1, Masafumi Yano
MGI ID: MGI:4442645
Synonyms: RyR2 R2474S
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:159451
Parent Cell Line:  CMTI-2 (ES Cell)
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Targeted (Humanized sequence)
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsExon 49 was replaced with one in which nucleotide substitutions result in the amino acid substitution of serine for arginine at position 2474 (R2474S), mimicking a mutation found in some catecholaminergic polymorphic ventricular tachycardia (CPVT) patients. An upstream floxed neo cassette was removed by cre mediated recombination leaving a single loxP site. (J:159451)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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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:159451 Uchinoumi H, et al., Catecholaminergic polymorphic ventricular tachycardia is caused by mutation-linked defective conformational regulation of the ryanodine receptor. Circ Res. 2010 Apr 30;106(8):1413-24
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
07/09/2019
MGI 6.14
The Jackson Laboratory