Ryr1^tm2.1Alle
Targeted Allele Detail

Summary

• Symbol: Ryr1^tm2.1Alle
• Name: ryanodine receptor 1, skeletal muscle; targeted mutation 2.1, Paul D Allen
• MGI ID: MGI:4887389
• Synonyms: MH-RyR1-R163C, RyR1-R163C
• Gene: Ryr1 Location: Chr7:28702765-28824599 bp, - strand Genetic Position: Chr7, 16.94 cM, cytoband A2-B3
• Alliance: Ryr1^tm2.1Alle page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:168222
• Parent Cell Line: W9.5/W95 (ES Cell)
• Strain of Origin: 129S1/Sv-Oca2⁺ Tyr⁺ Kitl⁺

Mutation description

• Allele Type: Targeted
• Mutation: Insertion
• Mutation details: Four nucleotides in exon 6 were modified (CgAgttggGgaT to TgCgttggAgaC) to encode an Arginine to Cysteine change of codon 163 as well as to generate a new BsmBI restriction site. In addition, a floxed neomycin cytosine deaminase cassette was inserted in the EagI site in intron 6. Germline deletion of the selection cassette was subsequently accomplished in the germ line by breeding to Alp1^tm1(cre)Nagy mice. (J:168222)

Disease models

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 4 strains available Cell Lines: 0 lines available
• Carrying any Ryr1 Mutation: 214 strains or lines available

References

• Original: J:168222 Yang T, et al., Pharmacologic and functional characterization of malignant hyperthermia in the R163C RyR1 knock-in mouse. Anesthesiology. 2006 Dec;105(6):1164-75
• All: 8 reference(s)