|
Symbol Name ID |
Bckdha
branched chain ketoacid dehydrogenase E1, alpha polypeptide MGI:107701 |
| 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 |
Elevated circulating hepatic transaminase 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 BCKDHA | ||||||||||||||||||
| maple syrup urine disease |
| Mouse Phenotypes | decreased fatty acid oxidation |
impaired adaptive thermogenesis |
decreased core body temperature |
impaired febrile response |
impaired glucose tolerance |
insulin resistance |
increased liver triglyceride level |
abnormal amino acid metabolism |
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| Availability | Mouse Genotype | ||||||||
| Bckdhatm1a(EUCOMM)Hmgu/Bckdhatm1a(EUCOMM)Hmgu Tg(Ucp1-cre)1Evdr/0 (conditional) |
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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 |
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