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 7.1.0) 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 and metanephros. 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] |