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

Symbol:	Ryr2tm2Amks
Name:	ryanodine receptor 2, cardiac; targeted mutation 2, Andrew R Marks
MGI ID:	MGI:3802940
Synonyms:	Ryr2-R2474S
Gene:	Ryr2  Location: Chr13:11567988-12121831 bp, - strand  Genetic Position: Chr13, 4.38 cM, cytoband A1-A2
Alliance:	Ryr2tm2Amks page

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+

Allele Type:    Targeted (Humanized sequence) Mutations:    Insertion, Nucleotide substitutions   Mutation details: Exon 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)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

2 anatomical structure(s)

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:	325 strains or lines available

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:	9 reference(s)