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

Symbol:	Ryr2tm2.1Msnr
Name:	ryanodine receptor 2, cardiac; targeted mutation 2.1, Gerhard Meissner
MGI ID:	MGI:5518958
Synonyms:	Ryr2D, RyR2-L3591D
Gene:	Ryr2  Location: Chr13:11567988-12121831 bp, - strand  Genetic Position: Chr13, 4.38 cM, cytoband A1-A2
Alliance:	Ryr2tm2.1Msnr page

Germline Transmission:	Earliest citation of germline transmission: J:200958
Parent Cell Line:	E14 (ES Cell)
Strain of Origin:	129P2/OlaHsd

Allele Type:    Targeted (Not Applicable) Mutations:    Insertion, Nucleotide substitutions   Mutation details: Exon 75 was replaced with a modified exon 75 in which nucleotide substitutions result in the amino acid substitution of aspartic acid for leucine at position 3591 (L3591D). This mutation eliminates CaM and S100A1 inhibition at diastolic Ca2+ ions only. A self-excising neomycin resistance cassette inserted dowsntream of the modified exon 75 is excised from the final allele. (J:200958)

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

In Structures Affected by this Mutation:

4 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:200958 Yamaguchi N, et al., Cardiac hypertrophy associated with impaired regulation of cardiac ryanodine receptor by calmodulin and S100A1. Am J Physiol Heart Circ Physiol. 2013 Jul 1;305(1):H86-94
All:	1 reference(s)