| Primary Identifier | MGI:2153356 | Allele Type | Targeted |
| Attribute String | Null/knockout | Gene | Col6a1 |
| Transmission | Germline | Strain of Origin | (129X1/SvJ x 129S1/Sv)F1-Kitl<+> |
| Is Recombinase | false | Is Wild Type | false |
| description | Note: Homozygous mutant mice may serve as an animal model of Bethlem myopathy. The functional deficit of the locomotor system is very limited in the mouse, where the myopathy is apparently asymptomatic. A major difference between the human and the mouse pathologies is the location of lesions: extensor muscles of limbs in Bethlem myopathy and diaphragm and auxiliary respiratory muscles in mice. |
| molecularNote | A neomycin resistance cassette was inserted into exon 2. Northern blot analysis demonstrated that the transcript was not detectable in primary embryonic fibroblasts derived from homozygous mice. Gel filtration chromatography experiments demonstrated that collagen VI was absent in homozygous mice. |
