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Symbol
Name
ID
Ppm1k
protein phosphatase 1K (PP2C domain containing)
MGI:2442111
Phenotype annotations related to homeostasis/metabolism
Darker colors indicate more annotations
Human Phenotypes
Increased serum pyruvate
Hyperisoleucinemia
Hyperleucinemia
Elevated circulating branched chain amino acid concentration
Elevated circulating L-alloisoleucine concentration
Increased CSF isoleucine concentration
Increased CSF leucine concentration
Increased CSF valine concentration
Reduced branched-chain alpha-keto acid dehydrogenase activity in cultured fibroblasts
Hypoglycemia
Ketoacidosis
Lactic acidosis
Metabolic acidosis
Cerebral edema
Positive 2,4-dinitrophenylhydrazine urine test
Increased level of hippuric acid in urine
Ketosis
Disease(s) Associated with PPM1K
maple syrup urine disease

Mouse Phenotypes
abnormal circulating amino acid level
Availability Mouse Genotype
Ppm1ktm1Yiwa/Ppm1ktm1Yiwa

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