| Primary Identifier | MGI:109618 | Organism | mouse, laboratory |
| Chromosome | 8 | NCBI Gene Number | 11966 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable proton-transporting ATPase activity, rotational mechanism. Involved in synaptic vesicle lumen acidification. Located in several cellular components, including apical plasma membrane; microvillus; and ruffle. Is expressed in several structures, including alimentary system; genitourinary system; integumental system; nervous system; and sensory organ. Used to study autosomal dominant congenital deafness with onychodystrophy and epilepsy. Human ortholog(s) of this gene implicated in autosomal dominant congenital deafness with onychodystrophy. Orthologous to human ATP6V1B2 (ATPase H+ transporting V1 subunit B2). PHENOTYPE: Mice homozygous for a single point mutation show slow postnatal weight gain, abnormal hippocampus CA1 region morphology, cognitive deficits, and environmentally induced seizures. Homozygosity for the p.R506* mutation leads to hyperactivity, decreased anxiety, lower chemically induced seizure threshold and stimuli-induced 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
