| Primary Identifier | MGI:107384 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 13429 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables several functions, including GDP binding activity; GTPase activity; and identical protein binding activity. Involved in endocytosis; modulation of chemical synaptic transmission; and regulation of vesicle size. Located in photoreceptor inner segment. Part of membrane coat. Is active in glutamatergic synapse; photoreceptor ribbon synapse; and presynaptic endocytic zone membrane. Is expressed in several structures, including liver; male reproductive gland or organ; nervous system; skeletal muscle; and small intestine. Used to study idiopathic generalized epilepsy. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 31A and developmental and epileptic encephalopathy 31B. Orthologous to human DNM1 (dynamin 1). PHENOTYPE: Homozygous mice display reduced postnatal viability. Null mutation of this gene results in abnormal synaptic vesicle morphology, and recycling during neuronal activity. Other alleles are associated with 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
