Primary Identifier | MGI:97384 | Organism | mouse, laboratory |
Chromosome | 13 | NCBI Gene Number | 18212 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables brain-derived neurotrophic factor binding activity and brain-derived neurotrophic factor receptor activity. Involved in several processes, including brain-derived neurotrophic factor receptor signaling pathway; modulation of chemical synaptic transmission; and nervous system development. Acts upstream of or within several processes, including neurogenesis; neuronal action potential propagation; and positive regulation of peptidyl-serine phosphorylation. Located in several cellular components, including early endosome; postsynaptic density; and terminal bouton. Is expressed in several structures, including alimentary system; future brain; genitourinary system; integumental system; and nervous system. Human ortholog(s) of this gene implicated in several diseases, including alcohol dependence; autistic disorder; developmental and epileptic encephalopathy 58; heroin dependence; and morbid obesity. Orthologous to human NTRK2 (neurotrophic receptor tyrosine kinase 2). PHENOTYPE: Different lines of homozygous mice show varied abnormalities including innervation and neural defects, rod defects, impaired ovarian folliculogenesis, and reduced postnatal survival. Homozygotes for a point mutation are normal, but are subject to pharmacological control of signalling. [provided by MGI curators] |