|
Symbol Name ID |
Atp1a3
ATPase, Na+/K+ transporting, alpha 3 polypeptide MGI:88107 |
| * | Aspects of the system are reported to show a normal phenotype. |
| ! | Indicates phenotype varies with strain background. |
| Darker colors indicate more annotations |
| Human Phenotypes | Microcephaly |
Drooling |
Torticollis |
Anorexia |
Dysphagia |
Oral-pharyngeal dysphagia |
Oculomotor apraxia |
Delayed CNS myelination |
Atrophy/Degeneration affecting the brainstem |
Ventriculomegaly |
Perisylvian polymicrogyria |
Thick corpus callosum |
Thin corpus callosum |
Frontotemporal cerebral atrophy |
Hypoplastic hippocampus |
Cerebellar atrophy |
Ataxia |
Gait ataxia |
Bradykinesia |
Parkinsonism |
Choreoathetosis |
Chorea |
Eyelid myoclonus |
Paroxysmal dyskinesia |
Tremor |
Resting tremor |
Abnormal pyramidal sign |
Hemiplegia |
Episodic hemiplegia |
Tetraparesis |
Tetraplegia |
Episodic quadriplegia |
Multifocal epileptiform discharges |
Delayed speech and language development |
Dysarthria |
Mutism |
Depression |
Emotional lability |
Anxiety |
Atypical behavior |
Aggressive behavior |
Impulsivity |
Mental deterioration |
Progressive neurologic deterioration |
Intellectual disability |
Hyperreflexia |
Areflexia |
Dystonia |
Craniofacial dystonia |
Limb dystonia |
Unsteady gait |
Postural instability |
Bulbar signs |
Headache |
Developmental regression |
Neurodevelopmental delay |
Global developmental delay |
Motor delay |
Seizure |
Bilateral tonic-clonic seizure |
Focal impaired awareness seizure |
Generalized non-motor (absence) seizure |
Focal-onset seizure |
Focal motor seizure |
Focal hemiclonic seizure |
Multifocal seizures |
Epileptic spasm |
Tonic seizure |
Status epilepticus |
Abnormal autonomic nervous system physiology |
| Disease(s) Associated with ATP1A3 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| alternating hemiplegia of childhood | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| developmental and epileptic encephalopathy 99 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| dystonia 12 |
| Mouse Phenotypes | nervous system phenotype |
increased susceptibility to pharmacologically induced seizures |
seizures |
abnormal seizure response to inducing agent |
increased kindling response |
environmentally induced seizures |
convulsive seizures |
abnormal spike wave discharge |
microgliosis |
abnormal dentate gyrus morphology |
abnormal hippocampus granule cell morphology |
abnormal hippocampus pyramidal cell morphology |
abnormal temporal lobe morphology |
astrocytosis |
abnormal action potential |
abnormal neuron physiology |
abnormal sensorimotor gating |
abnormal CNS synaptic transmission |
increased miniature inhibitory postsynaptic current frequency |
decreased prepulse inhibition |
|
| Availability | Mouse Genotype | ||||||||||||||||||||
| Atp1a3Myk/Atp1a3+ | * | ! | ! | ! | |||||||||||||||||
| Atp1a3Myk/Atp1a3+ Tg(Atp1a3)1Stcl/0 |
* | ||||||||||||||||||||
| Atp1a3tm1.1Kwk/Atp1a3+ | * | ||||||||||||||||||||
| Atp1a3tm1.1Tmklh/Atp1a3+ | * | ||||||||||||||||||||
| Atp1a3tm1Mika/Atp1a3+ | |||||||||||||||||||||
| Atp1a3tm1Ute/Atp1a3+ | |||||||||||||||||||||
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
||
|
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support. |
last database update 05/21/2024 MGI 6.23 |
|
|
|
||
Analysis Tools