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Ryr1m1Nisw
Chemically induced Allele Detail
Nomenclature
Symbol: Ryr1m1Nisw
Name: ryanodine receptor 1, skeletal muscle; mutation 1, Lee Niswander
MGI ID: MGI:4887400
Synonyms: Ryr1AG
Gene: Ryr1  Location: Chr7:28702765-28824599 bp, - strand  Genetic Position: Chr7, 16.94 cM, cytoband A2-B3
Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsThis mutation was isolated in an ENU-mutagenesis screen. The molecular mutation is an A-to-G point mutation in the coding region of the gene. Transcript accession for RyR1 was NM_0091009 and the ENU-induced change was A12864G (protein NP_033135, resulting in E4242G). (J:219285)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 20 assay results
In Structures Affected by this Mutation: 4 anatomical structures
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
References
Original:  J:219285 Hanson MG, et al., Potassium dependent rescue of a myopathy with core-like structures in mouse. Elife. 2015;4
All:  2 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
11/30/2021
MGI 6.17
The Jackson Laboratory