Ryr1^tm1.1Msnr
Targeted Allele Detail

Summary

• Symbol: Ryr1^tm1.1Msnr
• Name: ryanodine receptor 1, skeletal muscle; targeted mutation 1.1, Gerhard Meissner
• MGI ID: MGI:5484746
• Synonyms: Ryr1^D
• Gene: Ryr1 Location: Chr7:28702765-28824599 bp, - strand Genetic Position: Chr7, 16.94 cM, cytoband A2-B3
• Alliance: Ryr1^tm1.1Msnr page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:195542
• Parent Cell Line: E14 (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Not Specified)
• Mutation: Single point mutation
• Mutation details: A nucleic acid base change was inserted into exon 74 causing a change in amino acid 3625 from Leucine to Aspartic Acid (L3625D). In addition, a floxed cassette composed of a neomycin gene and a testis-specific angiotensin-convertingenzyme promoter driving expression of cre recombinase was inserted in intron 76. Germline transmission therefore results in excision of the neomycin selection cassette and the cre recombinase. (J:195542)

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 Ryr1 Mutation: 214 strains or lines available

References

• Original: J:195542 Yamaguchi N, et al., Modulation of sarcoplasmic reticulum Ca2+ release in skeletal muscle expressing ryanodine receptor impaired in regulation by calmodulin and S100A1. Am J Physiol Cell Physiol. 2011 May;300(5):C998-C1012
• All: 1 reference(s)