Ryr1<tm1Alle> Targeted Allele Detail MGI Mouse (MGI:4887253)

Ryr1^tm1Alle
Targeted Allele Detail

Summary

Symbol:	Ryr1^tm1Alle
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:	Ryr1^tm1Alle page

Mutation
origin

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

Mutation
description

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)

Phenotypes

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

Expression

In Mice Carrying this Mutation:

6 assay results
1 RNA-Seq or microarray experiment(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: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:	13 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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