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Ryr1tm1Slh
Targeted Allele Detail
Nomenclature
Symbol: Ryr1tm1Slh
Name: ryanodine receptor 1, skeletal muscle; targeted mutation 1, Susan L Hamilton
MGI ID: MGI:3619253
Synonyms: Ryr1Y522Sneo, RyR1Y524S
Gene: Ryr1  Location: Chr7:29003344-29125179 bp, - strand  Genetic Position: Chr7, 16.94 cM, cytoband A2-B3
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:105738
Parent Cell Line:  AB2.2 (ES Cell)
Strain of Origin:  129S7/SvEvBrd-Hprtb-m2
Mutation
description
Allele Type:    Targeted (Humanized sequence, Inserted expressed sequence)
Mutation:    Insertion
 
Mutation detailsA targeting vector was designed to insert a Y524S mutation into exon 14. This corresponds to the human Y522S mutation in patients with malignant hyperthermia. (J:105738)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 7 anatomical structures
Find Mice (IMSR)
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:  11 strains or lines available
References
Original:  J:105738 Chelu MG, et al., Heat- and anesthesia-induced malignant hyperthermia in an RyR1 knock-in mouse. FASEB J. 2006 Feb;20(2):329-30
All:  9 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
12/11/2018
MGI 6.13
The Jackson Laboratory