Col6a1^em1Sal
Endonuclease-mediated Allele Detail

Summary

• Symbol: Col6a1^em1Sal
• Name: collagen, type VI, alpha 1; endonuclease-mediated mutation 1, Universidad de Salamanca
• MGI ID: MGI:8316722
• Synonyms: Col6A1em1(c.874G>A), Col6a1 Ki G292R
• Gene: Col6a1 Location: Chr10:76544626-76561869 bp, - strand Genetic Position: Chr10, 39.71 cM, cytoband B5-C1
• Alliance: Col6a1^em1Sal page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Dominant negative, Humanized sequence)
• Mutation: Single point mutation
• Mutation details: Glycine codon 292 (GGA) in exon 10 was changed to arginine (AGA) (c.874 G>A p.G292R) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. The mutation, in the N-terminus of the triple helical domain of the encoded protein, is the equivalent of the dominant negative human p.G293R mutation associated with Ullrich congenital muscular dystrophy 1A. Mice with this allele present with a number of muscle related phenotypes, such as reduced muscle weight and strength, and fibrosis. (J:379456)

Disease models

Expression

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: 0 strains available Cell Lines: 0 lines available
• Carrying any Col6a1 Mutation: 59 strains or lines available

Notes

Strain EM:15993

References

• Original: J:379456 Lopez-Marquez A, et al., Col6a1 knock-in mice provide a promising pre-clinical model for collagen VI-related dystrophies. Dis Model Mech. 2026 Jan 1;19(1)
• All: 1 reference(s)