Symbol Name ID |
Polg
polymerase (DNA directed), gamma MGI:1196389 |
Darker colors indicate more annotations |
Human Phenotypes | Weakness of facial musculature |
Facial palsy |
Scapular winging |
Limb muscle weakness |
Gastroparesis |
Hypertonia |
Rigidity |
Spasticity |
Spastic paraparesis |
Progressive spasticity |
Hypotonia |
Generalized hypotonia |
EMG: myopathic abnormalities |
Difficulty climbing stairs |
Frequent falls |
Cytochrome C oxidase-negative muscle fibers |
Depletion of mitochondrial DNA in muscle tissue |
Multiple mitochondrial DNA deletions |
Mitochondrial myopathy |
Subsarcolemmal accumulations of abnormally shaped mitochondria |
Muscle spasm |
Muscle weakness |
Distal muscle weakness |
Generalized muscle weakness |
Neck flexor weakness |
Progressive muscle weakness |
Proximal muscle weakness |
Respiratory insufficiency due to muscle weakness |
Fiber type grouping |
Increased variability in muscle fiber diameter |
Centrally nucleated skeletal muscle fibers |
Muscle fiber atrophy |
Muscle fiber necrosis |
Ragged-red muscle fibers |
Skeletal muscle atrophy |
Generalized amyotrophy |
Myopathy |
Rhabdomyolysis |
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 | abnormal myocardial fiber morphology |
decreased skeletal muscle mass |
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Availability | Mouse Genotype | ||
Polgtm1.1Lrsn/Polgtm1.1Lrsn | |||
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 04/23/2024 MGI 6.23 |
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