Symbol
Name
ID

Polg
polymerase (DNA directed), gamma
MGI:1196389

Phenotype annotations related to homeostasis/metabolism

Darker colors indicate more annotations

Human Phenotypes

Decreased activity of mitochondrial complex I

Decreased activity of mitochondrial complex IV

Elevated circulating creatine kinase concentration

Mildly elevated creatine kinase

Increased CSF protein concentration

Elevated circulating hepatic transaminase concentration

Increased circulating lactate concentration

Anasarca

Microvesicular hepatic steatosis

3-Methylglutaconic aciduria

Ethylmalonic aciduria

Aciduria

Ascites

Exercise intolerance

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

sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

Mouse Phenotypes		decreased circulating glucose level	increased circulating lactate level	abnormal dopamine level	decreased noradrenaline level	decreased serotonin level
Availability	Mouse Genotype	decreased circulating glucose level	increased circulating lactate level	abnormal dopamine level	decreased noradrenaline level	decreased serotonin level
	Polg^tm1Jiha/Polg^tm1Jiha
	Tg(Camk2a-Polg*D181A)BTkato/0

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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