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Targeted Allele Detail
Symbol: Ryr1tm1.1Msnr
Name: ryanodine receptor 1, skeletal muscle; targeted mutation 1.1, Gerhard Meissner
MGI ID: MGI:5484746
Synonyms: Ryr1D
Gene: Ryr1  Location: Chr7:28702765-28824599 bp, - strand  Genetic Position: Chr7, 16.94 cM, cytoband A2-B3
Alliance: Ryr1tm1.1Msnr page
Germline Transmission:  Earliest citation of germline transmission: J:195542
Parent Cell Line:  E14 (ES Cell)
Strain of Origin:  129P2/OlaHsd
Allele Type:    Targeted (Not Specified)
Mutation:    Single point mutation
Mutation detailsA 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)
View phenotypes and curated references for all genotypes (concatenated display).
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:  139 strains or lines available
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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
MGI 6.22
The Jackson Laboratory