|
Symbol Name ID |
Atp1a2
ATPase, Na+/K+ transporting, alpha 2 polypeptide MGI:88106 |
| Darker colors indicate more annotations |
| Human Phenotypes | Secondary microcephaly |
Cerebral edema |
Anorexia |
Dysphagia |
Oral-pharyngeal dysphagia |
Oculomotor apraxia |
Perisylvian polymicrogyria |
Thick corpus callosum |
Thin corpus callosum |
Cerebral atrophy |
Cerebellar atrophy |
Ataxia |
Dysmetria |
Episodic ataxia |
Gait ataxia |
Apraxia |
Choreoathetosis |
Chorea |
Paroxysmal dyskinesia |
Tremor |
Abnormal pyramidal sign |
Hemiparesis |
Hemiplegia |
Episodic hemiplegia |
Tetraparesis |
Tetraplegia |
Episodic quadriplegia |
EEG abnormality |
EEG with burst suppression |
Reduced eye contact |
Absent speech |
Aphasia |
Delayed speech and language development |
Dysarthria |
Emotional lability |
Atypical behavior |
Aggressive behavior |
Attention deficit hyperactivity disorder |
Impulsivity |
Confusion |
Mental deterioration |
Progressive neurologic deterioration |
Intellectual disability |
Coma |
Drowsiness |
Sleep apnea |
Hyperreflexia |
Areflexia |
Dystonia |
Myokymia |
Brain imaging abnormality |
Bulbar signs |
Headache |
Migraine |
Migraine with aura |
Developmental regression |
Neurodevelopmental delay |
Global developmental delay |
Motor delay |
Seizure |
Bilateral tonic-clonic seizure |
Bilateral tonic-clonic seizure with focal onset |
Focal-onset seizure |
Focal motor seizure |
Focal clonic seizure |
Febrile seizure (within the age range of 3 months to 6 years) |
Clonic seizure |
Status epilepticus |
Refractory status epilepticus |
Abnormal autonomic nervous system physiology |
| Disease(s) Associated with ATP1A2 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| alternating hemiplegia of childhood | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| benign neonatal seizures | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| developmental and epileptic encephalopathy 98 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| familial hemiplegic migraine 2 |
| Mouse Phenotypes | abnormal amygdala morphology |
abnormal olfactory cortex morphology |
abnormal hippocampus physiology |
abnormal nervous system electrophysiology |
abnormal action potential |
abnormal somatic nervous system physiology |
abnormal synaptic neurotransmitter level |
|
| Availability | Mouse Genotype | |||||||
| Atp1a2tm1.1Tmklh/Atp1a2tm1.1Tmklh | ||||||||
| Atp1a2tm1Kwk/Atp1a2tm1Kwk | ||||||||
| Atp1a2tm2Kwk/Atp1a2tm2Kwk | ||||||||
| Atp1a2tm1.1Gica/Atp1a2+ | ||||||||
| Atp1a2tm1.1Tmklh/Atp1a2+ | ||||||||
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 04/23/2024 MGI 6.23 |
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