Primary Identifier | MGI:104807 | Organism | mouse, laboratory |
Chromosome | X | NCBI Gene Number | 102866 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) A structural constituent of presynaptic actin cytoskeleton. Involved in regulation of synaptic vesicle cycle. Located in cytoplasm. Is active in neuromuscular junction. Is expressed in several structures, including female reproductive system; forebrain; gut; lung; and yolk sac. Used to study congenital diaphragmatic hernia and osteoporosis. Human ortholog(s) of this gene implicated in congenital diaphragmatic hernia. Orthologous to human PLS3 (plastin 3). PHENOTYPE: Mice homozygous or hemizygous for a knock-out allele exhibit osteoporotic phenotypes with increased bone resorption. [provided by MGI curators] |