Ryr1^m1Nisw
Chemically induced Allele Detail

Summary

• Symbol: Ryr1^m1Nisw
• Name: ryanodine receptor 1, skeletal muscle; mutation 1, Lee Niswander
• MGI ID: MGI:4887400
• Synonyms: Ryr1^AG
• Gene: Ryr1 Location: Chr7:28702765-28824599 bp, - strand Genetic Position: Chr7, 16.94 cM, cytoband A2-B3
• Alliance: Ryr1^m1Nisw page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: This mutation was isolated in an ENU-mutagenesis screen. The molecular mutation is an A-to-G point mutation in the coding region of the gene. Transcript accession for RyR1 was NM_0091009 and the ENU-induced change was A12864G (protein NP_033135, resulting in E4242G). (J:219285)

Disease models

Expression

In Mice Carrying this Mutation:	20 assay results
In Structures Affected by this Mutation:	3 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:219285 Hanson MG, et al., Potassium dependent rescue of a myopathy with core-like structures in mouse. Elife. 2015;4
• All: 2 reference(s)