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Ryr2tm3.1Amks
Targeted Allele Detail
Nomenclature
Symbol: Ryr2tm3.1Amks
Name: ryanodine receptor 2, cardiac; targeted mutation 3.1, Andrew R Marks
MGI ID: MGI:5582510
Synonyms: RyR2-N2386I
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:  Not Specified
Mutation
description
Allele Type:    Targeted (Humanized sequence)
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsExon 47 was replaced with a self-excising neomycin resistance cassette and a modified exon 47 in which nucleotide substitution(s) results(s) in the amino acid susbtitution of isoleucine for asparagine at position 2386 (N2386I), mimicking a mutation found in some catecholaminergic polymorphic ventricular tachycardia (CPVT) patients. This mutation results in a leaky channel. The final allele lacks 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