About   Help   FAQ
Ryr1tm1Slh
Targeted Allele Detail
Summary
Symbol: Ryr1tm1Slh
Name: ryanodine receptor 1, skeletal muscle; targeted mutation 1, Susan L Hamilton
MGI ID: MGI:3619253
Synonyms: Ryr1Y522Sneo, RyR1Y524S
Gene: Ryr1  Location: Chr7:28702765-28824599 bp, - strand  Genetic Position: Chr7, 16.94 cM, cytoband A2-B3
Alliance: Ryr1tm1Slh page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:105738
Parent Cell Line:  AB2.2 (ES Cell)
Strain of Origin:  129S7/SvEvBrd-Hprt1b-m2
Mutation
description
Allele Type:    Targeted (Humanized sequence, Modified isoform(s))
Mutations:    Insertion, Nucleotide substitutions
 
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
Loading...
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Loading...
Expression
In Structures Affected by this Mutation: 7 anatomical structure(s)
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:  214 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:  14 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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
03/12/2024
MGI 6.23
The Jackson Laboratory