| Primary Identifier | MGI:88459 | Organism | mouse, laboratory |
| Chromosome | 10 | NCBI Gene Number | 12833 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Predicted to enable collagen binding activity and platelet-derived growth factor binding activity. Acts upstream of or within several processes, including extracellular matrix organization; lung development; and skeletal muscle tissue development. Located in sarcolemma. Is active in several cellular components, including lysosome; myofibril; and sarcoplasmic reticulum. Is expressed in several structures, including alimentary system; brain; genitourinary system; heart and pericardium; and sensory organ. Used to study Bethlem myopathy and Ullrich congenital muscular dystrophy. Human ortholog(s) of this gene implicated in Bethlem myopathy and Ullrich congenital muscular dystrophy. Orthologous to human COL6A1 (collagen type VI alpha 1 chain). PHENOTYPE: Mice homozygous for this targeted mutation display a myopathic disorder that resembles human Bethlem myopathy. Loss of contractile strength in affected muscles is associated with an unexpected latent mitochondrial dysfunction in myofibers, as well as spontaneous apoptosis. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
