About   Help   FAQ
Ryr1tm1.1Dhm
Targeted Allele Detail
Summary
Symbol: Ryr1tm1.1Dhm
Name: ryanodine receptor 1, skeletal muscle; targeted mutation 1.1, David H MacLennan
MGI ID: MGI:4418317
Synonyms: Ryr1I4895T, Ryr1IT
Gene: Ryr1  Location: Chr7:28702765-28824599 bp, - strand  Genetic Position: Chr7, 16.94 cM, cytoband A2-B3
Alliance: Ryr1tm1.1Dhm page
Kyphosis, hindlimb paresis and myofiber abnormalities in Ryr1tm1.1Dhm/Ryr1+ mice

Show the 7 phenotype image(s) involving this allele.

Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:127629
Parent Cell Line:  TC1/TC-1 (ES Cell)
Strain of Origin:  129S6/SvEvTac
Mutation
description
Allele Type:    Targeted (Humanized sequence)
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsA targeting vector was designed to insert a t14693c mutation into exon 102 that results in the amino acid substitution of threonine for isoleucine at position 4895 (I4895T). An additional silent substitution (g14697t) was introduced to aid in genotyping and allele expression studies. A neomycin selection cassette originally inserted in intron 101 was removed by cre mediated recombination. (J:127629)
Phenotypes
Loading...
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Loading...
Expression
In Structures Affected by this Mutation: 15 anatomical structure(s)
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:127629 Zvaritch E, et al., An Ryr1I4895T mutation abolishes Ca2+ release channel function and delays development in homozygous offspring of a mutant mouse line. Proc Natl Acad Sci U S A. 2007 Nov 20;104(47):18537-42
All:  7 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
04/23/2024
MGI 6.23
The Jackson Laboratory