Primary Identifier | MGI:2154244 | Organism | mouse, laboratory |
Chromosome | 6 | NCBI Gene Number | 67784 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables semaphorin receptor activity. Involved in several processes, including negative regulation of neuron apoptotic process; nervous system development; and semaphorin-plexin signaling pathway. Acts upstream of or within circulatory system development; dichotomous subdivision of terminal units involved in salivary gland branching; and kidney development. Located in axon; cell body; and plasma membrane. Is active in glutamatergic synapse. Is expressed in several structures, including cardiovascular system; genitourinary system; hemolymphoid system; liver; and nervous system. Used to study DiGeorge syndrome. Orthologous to human PLXND1 (plexin D1). PHENOTYPE: Nullizygous mice display neonatal lethality, thin-walled atria, and vascular abnormalities including abnormal branchial arch artery development, cardiac outflow tract anomalies, and reduced vascular smooth muscle around some vessels. Homozygotes for a knock-out allele show prenatal lethality, small fetal size, subcutaneous hemorrhage, atelectasis, impaired cardiac and pulmonary vascular development, and enhanced vascular endothelial cell migration and vessel formation. [provided by MGI curators] |