Primary Identifier | MGI:88492 | Organism | mouse, laboratory |
Chromosome | 16 | NCBI Gene Number | 17174 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables serine-type endopeptidase activity. Involved in complement activation, lectin pathway. Located in extracellular space. Is expressed in several structures, including alimentary system; brain; genitourinary system; liver; and spleen. Human ortholog(s) of this gene implicated in 3MC syndrome 1. Orthologous to human MASP1 (MBL associated serine protease 1). PHENOTYPE: Mice homozygous for a knockout allele display decreased survivor rate, reduced body weight, and impaired activation of the lectin and alternative complement pathways. [provided by MGI curators] |