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Targeted Allele Detail
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: Chr7:29003344-29125179 bp, - strand  Genetic Position: Chr7, 16.94 cM, cytoband A2-B3
Kyphosis, hindlimb paresis and myofiber abnormalities in Ryr1tm1.1Dhm/Ryr1+ mice

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

Germline Transmission:  Earliest citation of germline transmission: J:127629
Parent Cell Line:  TC1/TC-1 (ES Cell)
Strain of Origin:  129S6/SvEvTac
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)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 18 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:  11 strains or lines available
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:  6 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
MGI 6.14
The Jackson Laboratory