Symbol
Name
ID

Polg
polymerase (DNA directed), gamma
MGI:1196389

Phenotype annotations related to muscle

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
Availability	Mouse Genotype	abnormal myocardial fiber morphology	decreased skeletal muscle mass
	Polg^tm1.1Lrsn/Polg^tm1.1Lrsn
	Polg^tm1Prol/Polg^tm1Prol

Contributing Projects: 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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