| Primary Identifier | MGI:2449112 | Organism | mouse, laboratory |
| Chromosome | 17 | NCBI Gene Number | 224697 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable metalloendopeptidase activity. Predicted to be involved in extracellular matrix organization and proteolysis. Predicted to be located in collagen-containing extracellular matrix and microfibril. Predicted to be active in extracellular matrix. Is expressed in several structures, including cerebral cortex; embryo mesenchyme; eye; heart; and musculoskeletal system. Used to study Weill-Marchesani syndrome. Human ortholog(s) of this gene implicated in Weill-Marchesani syndrome. Orthologous to human ADAMTS10 (ADAM metallopeptidase with thrombospondin type 1 motif 10). PHENOTYPE: Mice homozygous for a truncation mutation exhibit decreased body weight and length, shorter long bones, thick skin, altered bone development, abnormalities in the ciliary apparatus of the eye, and increased skeletal muscle mass with increased numbers of smaller skeletal muscle fibers. [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
