Ryr2^tm2.1Msnr
Targeted Allele Detail

Summary

• Symbol: Ryr2^tm2.1Msnr
• Name: ryanodine receptor 2, cardiac; targeted mutation 2.1, Gerhard Meissner
• MGI ID: MGI:5518958
• Synonyms: Ryr2^D, RyR2-L3591D
• Gene: Ryr2 Location: Chr13:11567988-12121831 bp, - strand Genetic Position: Chr13, 4.38 cM, cytoband A1-A2
• Alliance: Ryr2^tm2.1Msnr page

Mutation origin

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

Mutation description

• 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)

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

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: 325 strains or lines available

References

• 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)