Primary Identifier | MGI:96298 | Organism | mouse, laboratory |
Chromosome | 9 | NCBI Gene Number | 15586 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables chondroitin hydrolase activity and hyalurononglucosaminidase activity. Involved in chondroitin sulfate catabolic process; hyaluronan catabolic process; and response to virus. Acts upstream of or within embryonic skeletal joint morphogenesis. Is active in lysosome. Is expressed in liver; metanephros; and renal tubule. Used to study mucopolysaccharidosis IX. Human ortholog(s) of this gene implicated in mucopolysaccharidosis and mucopolysaccharidosis IX. Orthologous to human HYAL1 (hyaluronidase 1). PHENOTYPE: Homozygous null mice display a progressive osteoarthritis associated with bony outgrowths, early loss of articular cartilage proteoglycans and accumulation of hyaluronan (HA) in the cartilage of knee joints, but show no signs of non-skeletal tissue GAG accumulation or increased serum HA levels. [provided by MGI curators] |