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Symbol
Name
ID
Polg
polymerase (DNA directed), gamma
MGI:1196389
Phenotype annotations related to behavior/neurological
*Aspects of the system are reported to show a normal phenotype.
Darker colors indicate more annotations
Human Phenotypes
Abdominal pain
Depression
Emotional lability
Apathy
Reduced social reciprocity
Impulsivity
Agitation
Restless legs
Dysphonia
Hypernasal speech
Disease(s) Associated with POLG
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
behavior/neurological phenotype
decreased food intake
increased fear-related response
increased startle reflex
abnormal voluntary movement
abnormal ultradian rhythm behavior
Availability Mouse Genotype
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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last database update
04/16/2024
MGI 6.23
The Jackson Laboratory