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Symbol
Name
ID
Pdha1
pyruvate dehydrogenase E1 alpha 1
MGI:97532
Phenotype annotations related to homeostasis/metabolism
Darker colors indicate more annotations
Human Phenotypes
Decreased activity of the pyruvate dehydrogenase complex
Increased serum pyruvate
Hyperalaninemia
Hyperammonemia
Abnormal CSF pyruvate family amino acid concentration
Increased CSF lactate
Chronic lactic acidosis
Increased circulating lactate concentration
Lactic acidosis
Congenital lactic acidosis
Severe lactic acidosis
Metabolic acidosis
Disease(s) Associated with PDHA1
pyruvate decarboxylase deficiency

Mouse Phenotypes
increased circulating insulin level
Availability Mouse Genotype
Pdha1tm1Ptl/Pdha1+
Tg(Ckmm-cre)5Khn/0  (conditional)
Pdha1tm1Ptl/Y
Tg(Ckmm-cre)5Khn/0  (conditional)

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
03/19/2024
MGI 6.23
The Jackson Laboratory