Primary Identifier | MGI:88145 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 12064 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable growth factor activity; nerve growth factor receptor binding activity; and neurotrophin TRKB receptor binding activity. Involved in several processes, including negative regulation of apoptotic signaling pathway; positive regulation of neuron projection development; and trans-synaptic signaling by BDNF, modulating synaptic transmission. Acts upstream of or within several processes, including modulation of chemical synaptic transmission; neuron differentiation; and regulation of neurogenesis. Located in several cellular components, including dendrite; perinuclear region of cytoplasm; and secretory granule. Is active in glutamatergic synapse; hippocampal mossy fiber to CA3 synapse; and neuronal dense core vesicle. Is expressed in several structures, including alimentary system; genitourinary system; nervous system; respiratory system; and sensory organ. Human ortholog(s) of this gene implicated in several diseases, including cocaine dependence; cognitive disorder (multiple); congenital central hypoventilation syndrome; neurodegenerative disease (multiple); and obstructive sleep apnea. Orthologous to human BDNF (brain derived neurotrophic factor). PHENOTYPE: Homozygotes for targeted null alleles exhibit sensory neuron losses affecting coordination, balance, hearing, taste, and breathing, cerebellar abnormalities, increased sympathetic neuron number, and postnatal lethality. Carriers show mild defects. Heterozygosity for a mutation that reduces levels of the mature form of the encoded peptide leads to depressive-like behavior. [provided by MGI curators] |