Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

Symbol:	Ryr1tm1Alle
Name:	ryanodine receptor 1, skeletal muscle; targeted mutation 1, Paul D Allen
MGI ID:	MGI:4887253
Synonyms:	Ry153
Gene:	Ryr1  Location: Chr7:28702765-28824599 bp, - strand  Genetic Position: Chr7, 16.94 cM, cytoband A2-B3
Alliance:	Ryr1tm1Alle page

Germline Transmission:	Earliest citation of germline transmission: J:111187
Parent Cell Line:	J1 (ES Cell)
Strain of Origin:	129S4/SvJae

Allele Type:    Targeted (Null/knockout) Mutation:    Insertion   Mutation details: A neomycin selection cassette was inserted in the KPN site at nt840 in exon10 to disrupt gene expression. (personal communication) Absence of protein expression was demonstrated by SDS-PAGE. (J:111187)

View phenotypes and curated references for all genotypes (concatenated display).

In Mice Carrying this Mutation:

6 assay results 1 RNA-Seq or microarray experiment(s)

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

Original:	J:111187 Buck ED, et al., Dyspedic mouse skeletal muscle expresses major elements of the triadic junction but lacks detectable ryanodine receptor protein and function. J Biol Chem. 1997 Mar 14;272(11):7360-7
All:	12 reference(s)