| Primary Identifier | MGI:1277955 | Organism | mouse, laboratory |
| Chromosome | 9 | NCBI Gene Number | 12217 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) A structural constituent of presynaptic active zone. Involved in protein localization to synapse; regulation of synaptic vesicle cycle; and synaptic vesicle clustering. Located in several cellular components, including cell surface; postsynaptic density; and presynaptic active zone. Is active in several cellular components, including GABA-ergic synapse; Schaffer collateral - CA1 synapse; and cochlear hair cell ribbon synapse. Is expressed in nervous system and retina. Used to study epilepsy. Orthologous to human BSN (bassoon presynaptic cytomatrix protein). PHENOTYPE: Mutants lacking functional protein exhibit impaired hippocampal and photoreceptor synaptic transmission, aberrant photoreceptor ribbon synapse formation, and spontaneous epileptic seizures. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
