Primary Identifier | MGI:103020 | Organism | mouse, laboratory |
Chromosome | 6 | NCBI Gene Number | 20965 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables identical protein binding activity. Involved in calcium-ion regulated exocytosis and synaptic vesicle clustering. Acts upstream of or within neurotransmitter secretion. Located in plasma membrane; postsynaptic density; and synaptic vesicle membrane. Part of SNARE complex. Is active in Schaffer collateral - CA1 synapse and glutamatergic synapse. Is expressed in several structures, including central nervous system; eye; genitourinary system; intercostal muscle; and nerve. Used to study autism spectrum disorder and epilepsy. Human ortholog(s) of this gene implicated in schizophrenia. Orthologous to human SYN2 (synapsin II). PHENOTYPE: Homozygous mutation of this gene results in central nervous system abnormalities. One model showed delayed synapse formation and decreased brain weight while another allele showed decreased post-tetanic potentiation and increased synaptic depression and development of convulsive seizures. [provided by MGI curators] |