Ryr1^tm1Tno
Targeted Allele Detail

Summary

• Symbol: Ryr1^tm1Tno
• Name: ryanodine receptor 1, skeletal muscle; targeted mutation 1, Tetsuo Noda
• MGI ID: MGI:2152826
• Synonyms: dyspedic, Ryr1^-, RyR1-D, skrr^m1
• Gene: Ryr1 Location: Chr7:28702765-28824599 bp, - strand Genetic Position: Chr7, 16.94 cM, cytoband A2-B3
• Alliance: Ryr1^tm1Tno page

Mutation origin

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

Mutation description

• 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)

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	4 anatomical structure(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: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)