| Primary Identifier | MGI:94885 | Organism | mouse, laboratory |
| Chromosome | 1 | NCBI Gene Number | 13346 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Predicted to enable cytoskeletal protein binding activity and identical protein binding activity. Predicted to be involved in intermediate filament organization and skeletal muscle organ development. Predicted to act upstream of or within muscle organ development. Located in several cellular components, including Z disc; fascia adherens; and sarcolemma. Colocalizes with intermediate filament. Is expressed in several structures, including alimentary system; cardiovascular system; embryo mesenchyme; musculature; and nephron. Used to study cardiomyopathy; dilated cardiomyopathy 1I; and myofibrillar myopathy 1. Human ortholog(s) of this gene implicated in intrinsic cardiomyopathy (multiple) and myopathy (multiple). Orthologous to human DES (desmin). PHENOTYPE: Homozygotes for targeted null mutations exhibit histologically detectable defects of cardiac, skeletal, and smooth muscle. Defects in the heart are most severe, and lead to calcification, progressive degeneration, and necrosis of the myocardium. [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
