Primary Identifier | MGI:88445 | Organism | mouse, laboratory |
Chromosome | 10 | NCBI Gene Number | 12813 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to be an extracellular matrix structural constituent conferring tensile strength. Predicted to be involved in cartilage development; endochondral ossification; and extracellular matrix organization. Located in cell cortex and extracellular matrix. Part of collagen trimer. Is expressed in several structures, including brain; cartilage; limb; pelvic girdle musculature; and skeletal system. Used to study Schmid metaphyseal chondrodysplasia. Human ortholog(s) of this gene implicated in Schmid metaphyseal chondrodysplasia and osteochondrodysplasia. Orthologous to human COL10A1 (collagen type X alpha 1 chain). PHENOTYPE: Homozygotes for targeted null mutations may exhibit abnormal trabecular bone, thinner growth plate resting zone and articular cartilage, and altered bone content. Mice homozygous for another knock-out allele exhibit altered B and T cell populations and TH1/TH2responses. [provided by MGI curators] |