Primary Identifier | MGI:88384 | Organism | mouse, laboratory |
Chromosome | X | NCBI Gene Number | 14071 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables peptidase activity. Acts upstream of or within blood coagulation. Predicted to be active in extracellular space. Is expressed in embryo and liver. Used to study hemophilia B. Human ortholog(s) of this gene implicated in X-linked thrombophilia due to factor IX defect; X-linked warfarin sensitivity; and hemophilia B. Orthologous to human F9 (coagulation factor IX). PHENOTYPE: Male hemizygotes for targeted null mutations are subject to fatal blood loss after tail snipping, and some affected males spontaneously die from umbilical cord bleeding. Carrier females show reduced levels of factor IX. [provided by MGI curators] |