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Ryr1tm1Tno
Targeted Allele Detail
Nomenclature
Symbol: Ryr1tm1Tno
Name: ryanodine receptor 1, skeletal muscle; targeted mutation 1, Tetsuo Noda
MGI ID: MGI:2152826
Synonyms: dyspedic, Ryr1-, RyR1-D, skrrm1
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:18895
Parent Cell Line:  J1 (ES Cell)
Strain of Origin:  129S4/SvJae
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutation:    Insertion
 
Mutation detailsA neomycin resistance cassette was inserted into exon 2 which encodes amino acids 18-58. Northern blot and RT-PCR analysis on RNA derived from skeletal muscle detected a larger transcript in homozygous mice than in wild-type. Western blot analysis confirmed that no full length protein is expressed from this allele. (J:18895)
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: 6 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:  121 strains or lines available
References
Original:  J:18895 Takeshima H, et al., Excitation-contraction uncoupling and muscular degeneration in mice lacking functional skeletal muscle ryanodine-receptor gene. Nature. 1994 Jun 16;369(6481):556-9
All:  20 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
06/12/2018
MGI 6.12
The Jackson Laboratory