Primary Identifier | MGI:98736 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 21824 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable calcium ion binding activity and transmembrane signaling receptor activity. Acts upstream of or within female pregnancy. Located in external side of plasma membrane. Is expressed in several structures, including alimentary system; extraembryonic component; genitourinary system; lung; and skeleton. Used to study thrombophilia. Human ortholog(s) of this gene implicated in several diseases, including acute kidney failure; atypical hemolytic-uremic syndrome; cerebrovascular disease (multiple); rheumatoid arthritis; and thrombophilia (multiple). Orthologous to human THBD (thrombomodulin). PHENOTYPE: Homozygous targeted null mutants are growth retarded and die by embryonic day 9.5. Embryos develop further in vitro than in vivo suggesting maternal-fetal incompatibility. Endothelial cell-specific, conditional knockouts suffer fatal juvenile thromboses. [provided by MGI curators] |