Ryr1^tm1Slh
Targeted Allele Detail

Summary

• Symbol: Ryr1^tm1Slh
• Name: ryanodine receptor 1, skeletal muscle; targeted mutation 1, Susan L Hamilton
• MGI ID: MGI:3619253
• Synonyms: Ryr1^Y522Sneo, RyR1^Y524S
• Gene: Ryr1 Location: Chr7:28702765-28824599 bp, - strand Genetic Position: Chr7, 16.94 cM, cytoband A2-B3
• Alliance: Ryr1^tm1Slh page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:105738
• Parent Cell Line: AB2.2 (ES Cell)
• Strain of Origin: 129S7/SvEvBrd-Hprt1^b-m2

Mutation description

• Allele Type: Targeted (Humanized sequence, Modified isoform(s))
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: A targeting vector was designed to insert a Y524S mutation into exon 14. This corresponds to the human Y522S mutation in patients with malignant hyperthermia. (J:105738)

Disease models

Expression

In Structures Affected by this Mutation:

6 anatomical structure(s)

Find Mice (IMSR)

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

References

• Original: J:105738 Chelu MG, et al., Heat- and anesthesia-induced malignant hyperthermia in an RyR1 knock-in mouse. FASEB J. 2006 Feb;20(2):329-30
• All: 14 reference(s)