| Primary Identifier | MGI:8316722 | Allele Type | Endonuclease-mediated |
| Attribute String | Dominant negative, Humanized sequence | Gene | Col6a1 |
| Strain of Origin | C57BL/6J | Is Recombinase | false |
| Is Wild Type | false |
| description | Strain EM:15993 |
| molecularNote | 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. |
