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Ryr2tm2Amks
Targeted Allele Detail
Nomenclature
Symbol: Ryr2tm2Amks
Name: ryanodine receptor 2, cardiac; targeted mutation 2, Andrew R Marks
MGI ID: MGI:3802940
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:137696
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Mutation
description
Allele Type:    Targeted (Humanized sequence)
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsExon 49 was replaced with one in which nucleotide substitutions resulted 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, and a self-excising, floxed neo cassette was inserted downstream of exon 50. The neo cassette excised itself leaving a loxP site behind. (J:137696)
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 structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Ryr2 Mutation:  39 strains or lines available
References
Original:  J:137696 Lehnart SE, et al., Leaky Ca2+ release channel/ryanodine receptor 2 causes seizures and sudden cardiac death in mice. J Clin Invest. 2008 Jun;118(6):2230-45
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
08/13/2019
MGI 6.14
The Jackson Laboratory