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Ryr2tm4.1Amks
Targeted Allele Detail
Nomenclature
Symbol: Ryr2tm4.1Amks
Name: ryanodine receptor 2, cardiac; targeted mutation 4.1, Andrew R Marks
MGI ID: MGI:5582511
Synonyms: RyR2-L433P
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:212640
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129 x C57BL/6
Mutation
description
Allele Type:    Targeted (Not Applicable)
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsExon 15 was replaced with a floxed neomycin resistance cassette and a modified exon 15 in which nucleotide substitution(s) result in the amino acid susbtitution of proline for leucine at position 433 (L433P). This mutation produces a leaky channel. Cre-mediated recombination removed the selection cassette. (J:212640)
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:212640 Shan J, et al., Calcium leak through ryanodine receptors leads to atrial fibrillation in 3 mouse models of catecholaminergic polymorphic ventricular tachycardia. Circ Res. 2012 Aug 31;111(6):708-17
All:  1 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