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Targeted Allele Detail
Symbol: Ryr1tm2.1Alle
Name: ryanodine receptor 1, skeletal muscle; targeted mutation 2.1, Paul D Allen
MGI ID: MGI:4887389
Synonyms: MH-RyR1-R163C, RyR1-R163C
Gene: Ryr1  Location: Chr7:29003344-29125179 bp, - strand  Genetic Position: Chr7, 16.94 cM, cytoband A2-B3
Germline Transmission:  Earliest citation of germline transmission: J:168222
Parent Cell Line:  W9.5/W95 (ES Cell)
Strain of Origin:  129S1/Sv-Oca2+ Tyr+ Kitl+
Allele Type:    Targeted
Mutation:    Insertion
Mutation detailsFour nucleotides in exon 6 were modified (CgAgttggGgaT to TgCgttggAgaC) to encode an Arginine to Cysteine change of codon 163 as well as to generate a new BsmBI restriction site. In addition, a floxed neomycin cytosine deaminase cassette was inserted in the EagI site in intron 6. Germline deletion of the selection cassette was subsequently accomplished in the germ line by breeding to Alp1tm1(cre)Nagy mice. (J:168222)
View phenotypes for all genotypes (concatenated display).
Disease models
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Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Ryr1 Mutation:  81 strains or lines available
Original:  J:168222 Yang T, et al., Pharmacologic and functional characterization of malignant hyperthermia in the R163C RyR1 knock-in mouse. Anesthesiology. 2006 Dec;105(6):1164-75
All:  6 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.03
The Jackson Laboratory