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

Symbol:	Ryr3tm1Vso
Name:	ryanodine receptor 3; targeted mutation 1, Vincenzo Sorrentino
MGI ID:	MGI:2181794
Synonyms:	RyR3-
Gene:	Ryr3  Location: Chr2:112461700-113047441 bp, - strand  Genetic Position: Chr2, 57.2 cM, cytoband E5-F3
Alliance:	Ryr3tm1Vso page

Germline Transmission:	Earliest citation of germline transmission: J:45244
Parent Cell Line:	E14 (ES Cell)
Strain of Origin:	129P2/OlaHsd

Allele Type:    Targeted (Null/knockout) Mutations:    Insertion, Intragenic deletion   Mutation details: Exon 6 was replaced with a neomycin resistance gene via homologous recombination resulting in the deletion of the transmembrane domain containing carboxy terminus of the protein. Western blot analysis of microsomal proteins from diaphram muscles confirmed the absence of gene expression in homozygous mutant animals. (J:45244)

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

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 Ryr3 Mutation:	261 strains or lines available

Original:	J:45244 Bertocchini F, et al., Requirement for the ryanodine receptor type 3 for efficient contraction in neonatal skeletal muscles. EMBO J. 1997 Dec 1;16(23):6956-63
All:	11 reference(s)