Symbol
Name
ID

Dbt
dihydrolipoamide branched chain transacylase E2
MGI:105386

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

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 DBT

maple syrup urine disease

Mouse Phenotypes		abnormal circulating amino acid level	decreased circulating alanine level	decreased circulating glutamic acid level	decreased circulating glutamine level	aminoaciduria
Availability	Mouse Genotype
	Dbt^tm1Geh/Dbt^tm1Geh

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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 04/30/2024 MGI 6.23