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Ryr1tm1.1Mfgo
Targeted Allele Detail
Summary
Symbol: Ryr1tm1.1Mfgo
Name: ryanodine receptor 1, skeletal muscle; targeted mutation 1.1, Michael Goldberg
MGI ID: MGI:6314276
Gene: Ryr1  Location: Chr7:28702765-28824599 bp, - strand  Genetic Position: Chr7, 16.94 cM, cytoband A2-B3
Alliance: Ryr1tm1.1Mfgo page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:101977
Parent Cell Line:  iTL BF1 (ES Cell)
Strain of Origin:  C57BL/6NTac
Mutation
description
Allele Type:    Targeted (Humanized sequence)
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsThe targeting vector contains as Thr4706Met point mutation (ACG to ATG) in exon 96 followed by an FRT-flanked neomycin cassette. Flp-mediated recombination removed the FRT-flanked neo cassette. The T4706M mutation was identified in a patient with RYR1 related myopathy. (J:101977)
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:  214 strains or lines available
References
Original:  J:101977 The Jackson Laboratory, Information obtained from The Jackson Laboratory, Bar Harbor, ME. Unpublished. 2005-2017;
All:  1 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
03/19/2024
MGI 6.23
The Jackson Laboratory