Primary Identifier | MGI:88095 | Organism | mouse, laboratory |
Chromosome | 1 | NCBI Gene Number | 11905 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable several functions, including heparin binding activity; identical protein binding activity; and serine-type endopeptidase inhibitor activity. Predicted to be involved in response to nutrient. Located in collagen-containing extracellular matrix. Is expressed in embryo; liver; neural tube; and notochord. Used to study antithrombin III deficiency. Human ortholog(s) of this gene implicated in antithrombin III deficiency; disseminated intravascular coagulation; intermediate coronary syndrome; thrombosis; and toxic shock syndrome. Orthologous to human SERPINC1 (serpin family C member 1). PHENOTYPE: Homozygotes for a targeted null mutation exhibit extensive subcutaneous hemorrhage, fibrin deposits in the myocardium and liver, and lethality by embryonic day 16.5. Heterozygotes challenged with lipopolysaccharide show increased fibrin deposits. [provided by MGI curators] |