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Ryr3tm1Vso
Targeted Allele Detail
Summary
Symbol: Ryr3tm1Vso
Name: ryanodine receptor 3; targeted mutation 1, Vincenzo Sorrentino
MGI ID: MGI:2181794
Synonyms: RyR3-
Gene: Ryr3  Location: Chr2:112461700-113047441 bp, - strand  Genetic Position: Chr2, 57.2 cM, cytoband E5-F3
Alliance: Ryr3tm1Vso page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:45244
Parent Cell Line:  E14 (ES Cell)
Strain of Origin:  129P2/OlaHsd
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsExon 6 was replaced with a neomycin resistance gene via homologous recombination resulting in the deletion of the transmembrane domain containing carboxy terminus of the protein. Western blot analysis of microsomal proteins from diaphram muscles confirmed the absence of gene expression in homozygous mutant animals. (J:45244)
Phenotypes
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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 Ryr3 Mutation:  261 strains or lines available
References
Original:  J:45244 Bertocchini F, et al., Requirement for the ryanodine receptor type 3 for efficient contraction in neonatal skeletal muscles. EMBO J. 1997 Dec 1;16(23):6956-63
All:  11 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
11/19/2024
MGI 6.24
The Jackson Laboratory