| Primary Identifier | MGI:1919127 | Organism | mouse, laboratory |
| Chromosome | 1 | NCBI Gene Number | 71877 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable alpha-tubulin binding activity. Involved in flagellated sperm motility. Located in axoneme and neuronal cell body. Is active in axonemal A tubule inner sheath and sperm flagellum. Is expressed in several structures, including brain; epithelium; future hindbrain roof plate; spinal cord ventricular layer; and spleen. Used to study juvenile myoclonic epilepsy. Human ortholog(s) of this gene implicated in juvenile absence epilepsy 1 and juvenile myoclonic epilepsy. Orthologous to human EFHC1 (EF-hand domain containing 1). PHENOTYPE: Mice homozygous or heterozygous for a null mutation display myoclonus and increased susceptibility to pharmacologically induced seizures. Homozygous mice also display enlarged brain ventricles and reduced hippocampal size. [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
