| Primary Identifier | MGI:1354710 | Organism | mouse, laboratory |
| Chromosome | 14 | NCBI Gene Number | 50769 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables aminophospholipid flippase activity. Involved in several processes, including detection of light stimulus involved in visual perception; positive regulation of cellular component organization; and sensory organ morphogenesis. Acts upstream of or within several processes, including determination of adult lifespan; eating behavior; and involuntary skeletal muscle contraction. Located in Golgi apparatus; endosome; and membrane. Is expressed in several structures, including nervous system; salivary gland; sensory organ; testis; and thymus. Used to study cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome. Human ortholog(s) of this gene implicated in cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4. Orthologous to human ATP8A2 (ATPase phospholipid transporting 8A2). PHENOTYPE: Mice homozygotes for spontaneous mutations have abnormal gait and tremors, with axonal degeneration in central and peripheral neurons. Symptoms progress to immobility and death by 1-month of age. Heterozygotes show subtle locomotor abnormalities and are hyporesponsive to tail pinching. Mice also show shortening of the retina outer segment. [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
