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

Symbol:	Ryr1tm1Tno
Name:	ryanodine receptor 1, skeletal muscle; targeted mutation 1, Tetsuo Noda
MGI ID:	MGI:2152826
Synonyms:	dyspedic, Ryr1-, RyR1-D, skrrm1
Gene:	Ryr1  Location: Chr7:28702765-28824599 bp, - strand  Genetic Position: Chr7, 16.94 cM, cytoband A2-B3
Alliance:	Ryr1tm1Tno page

Germline Transmission:	Earliest citation of germline transmission: J:18895
Parent Cell Line:	J1 (ES Cell)
Strain of Origin:	129S4/SvJae

Allele Type:    Targeted (Null/knockout) Mutation:    Insertion   Mutation details: A neomycin resistance cassette was inserted into exon 2 which encodes amino acids 18-58. Northern blot and RT-PCR analysis on RNA derived from skeletal muscle detected a larger transcript in homozygous mice than in wild-type. Western blot analysis confirmed that no full length protein is expressed from this allele. (J:18895)

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

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	4 anatomical structure(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:18895 Takeshima H, et al., Excitation-contraction uncoupling and muscular degeneration in mice lacking functional skeletal muscle ryanodine-receptor gene. Nature. 1994 Jun 16;369(6481):556-9
All:	22 reference(s)