Casq1^em1Slh
Endonuclease-mediated Allele Detail

Summary

• Symbol: Casq1^em1Slh
• Name: calsequestrin 1; endonuclease-mediated mutation 1, Susan L Hamilton
• MGI ID: MGI:7579292
• Synonyms: CASQ1^D244G
• Gene: Casq1 Location: Chr1:172037461-172047435 bp, - strand Genetic Position: Chr1, 79.54 cM
• Alliance: Casq1^em1Slh page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: Aspartic acid codon 244 (GAC) in exon 6 was changed to glycine (GGC) (p.D244G) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. The mutation is the equivalent of the same human mutation associated with vacuolar aggregate myopathy (VAM). (J:341814)

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 Casq1 Mutation: 27 strains or lines available

References

• Original: J:341814 Hanna AD, et al., Pathological mechanisms of vacuolar aggregate myopathy arising from a Casq1 mutation. FASEB J. 2021 May;35(5):e21349
• All: 1 reference(s)