|
Symbol Name ID |
Polg
polymerase (DNA directed), gamma MGI:1196389 |
| Darker colors indicate more annotations |
| Human Phenotypes | Microcephaly |
Facial palsy |
Hyposmia |
Absent Achilles reflex |
Increased CSF protein concentration |
Dysphagia |
Abnormality of visual evoked potentials |
Spasticity |
Spastic paraparesis |
Progressive spasticity |
Frequent falls |
Astrocytosis |
Gliosis |
Peripheral axonal neuropathy |
Sensory axonal neuropathy |
Abnormal cerebral white matter morphology |
Cerebral atrophy |
Cerebral cortical neurodegeneration |
Abnormal thalamic MRI signal intensity |
Abnormal cerebellar cortex morphology |
Cerebellar atrophy |
Atrophy/Degeneration involving the spinal cord |
Neuronal loss in central nervous system |
Ataxia |
Dysmetria |
Gait ataxia |
Progressive gait ataxia |
Limb ataxia |
Truncal ataxia |
Slurred speech |
Bradykinesia |
Parkinsonism |
Parkinsonism with favorable response to dopaminergic medication |
Choreoathetosis |
Myoclonus |
Tremor |
Intention tremor |
Resting tremor |
Hand tremor |
Paralysis |
Babinski sign |
Paraparesis |
Tetraparesis |
Dysarthria |
Depression |
Emotional lability |
Anxiety |
Panic attack |
Hallucinations |
Apathy |
Reduced social reciprocity |
Impulsivity |
Agitation |
Restless legs |
Cognitive impairment |
Memory impairment |
Dementia |
Frontal lobe dementia |
Diminished ability to concentrate |
Short attention span |
Coma |
Vegetative state |
Insomnia |
Abnormality of movement |
Hyperreflexia |
Areflexia |
Hyporeflexia |
Dyskinesia |
Dystonia |
Broad-based gait |
Gait imbalance |
Steppage gait |
Muscle fibrillation |
Postural instability |
Encephalopathy |
Migraine |
Developmental regression |
Global developmental delay |
Sensory ataxic neuropathy |
Seizure |
Bilateral tonic-clonic seizure |
Focal-onset seizure |
Focal myoclonic seizure |
Status epilepticus |
Epilepsia partialis continua |
Generalized non-convulsive status epilepticus without coma |
Hypoesthesia |
Impaired distal tactile sensation |
Impaired distal proprioception |
Impaired vibratory sensation |
Impaired distal vibration sensation |
Positive Romberg sign |
Sensory ataxia |
Abnormal autonomic nervous system physiology |
| Disease(s) Associated with POLG | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alpers-Huttenlocher syndrome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| autosomal dominant progressive external ophthalmoplegia 1 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| autosomal recessive progressive external ophthalmoplegia 1 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| mitochondrial DNA depletion syndrome 4b | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Parkinson's disease | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| sensory ataxic neuropathy, dysarthria, and ophthalmoparesis |
| Mouse Phenotypes | cochlear outer hair cell degeneration |
cochlear hair cell degeneration |
cochlear ganglion degeneration |
|
| Availability | Mouse Genotype | |||
| Polgtm1Prol/Polgtm1Prol | ||||
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 04/16/2024 MGI 6.23 |
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