Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Ryr2tm1.1Clhh
Name:	ryanodine receptor 2, cardiac; targeted mutation 1.1, Christopher Huang
MGI ID:	MGI:5432111
Synonyms:	RyR2P2328S, RyR2s
Gene:	Ryr2  Location: Chr13:11567988-12121831 bp, - strand  Genetic Position: Chr13, 4.38 cM, cytoband A1-A2
Alliance:	Ryr2tm1.1Clhh page

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 details: Exon 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).

In Structures Affected by this Mutation:

1 anatomical structure(s)

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:	325 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)