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Targeted Allele Detail
Symbol: Ryr2tm1.1Clhh
Name: ryanodine receptor 2, cardiac; targeted mutation 1.1, Christopher Huang
MGI ID: MGI:5432111
Synonyms: RyR2P2328S, RyR2s
Gene: Ryr2  Location: Chr13:11553102-12106945 bp, - strand  Genetic Position: Chr13, 4.38 cM, cytoband A1-A2
Germline Transmission:  Earliest citation of germline transmission: J:186379
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129S/SvEv
Allele Type:    Targeted (Humanized sequence)
Mutations:    Insertion, Nucleotide substitutions
Mutation detailsExon 45 was replaced with one in which nucleotide substitutions (CCC to TCT) result in the amino acid substitution of serine for proline at 2328 (P2328S), mimicking a mutation found in some catecholaminergic polymorphic ventricular tachycardia (CPVT) patients. A floxed neo cassette inserted downstream of exon 45 was removed by cre mediated recombination. (J:186379)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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:  35 strains or lines available
Original:  J:186379 Goddard CA, et al., Physiological consequences of the P2328S mutation in the ryanodine receptor (RyR2) gene in genetically modified murine hearts. Acta Physiol (Oxf). 2008 Oct;194(2):123-40
All:  6 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
MGI 6.16
The Jackson Laboratory