| Primary Identifier | MGI:99666 | Organism | mouse, laboratory |
| Chromosome | 1 | NCBI Gene Number | 20980 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables calcium ion binding activity; inositol 1,3,4,5 tetrakisphosphate binding activity; and phospholipid binding activity. Involved in calcium-dependent activation of synaptic vesicle fusion. Located in axon and plasma membrane. Is active in neuromuscular junction. Is expressed in several structures, including central nervous system; heart; integumental system; peripheral nervous system; and sensory organ. Human ortholog(s) of this gene implicated in congenital myasthenic syndrome and congenital myasthenic syndrome 7. Orthologous to human SYT2 (synaptotagmin 2). PHENOTYPE: Mice homozygous for an ENU-induced allele are viable but sterile, weigh less and show ataxia and altered spontaneous and Ca2+-evoked neurotransmitter release. Mice homozygous for a null allele die at weaning showing growth arrest, motor dysfunction and impaired Ca2+-evoked neurotransmitter release. [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
