Symbol
Name
ID

Hmgcs2
3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2
MGI:101939

Phenotype annotations related to homeostasis/metabolism

Darker colors indicate more annotations

Human Phenotypes

Abnormality of metabolism/homeostasis

Hypophosphatemia

Increased circulating free fatty acid level

Elevated circulating hepatic transaminase concentration

Elevated circulating alanine aminotransferase concentration

Elevated circulating aspartate aminotransferase concentration

Increased circulating lactate dehydrogenase concentration

Hypoglycemia

Metabolic acidosis

Hepatic steatosis

Dicarboxylic aciduria

Elevated urinary 3-hydroxybutyric acid

Ketonuria

Disease(s) Associated with HMGCS2

HMG-CoA synthase 2 deficiency

Mouse Phenotypes		abnormal circulating ketone body level	decreased circulating ketone body level	increased liver triglyceride level
Availability	Mouse Genotype	abnormal circulating ketone body level	decreased circulating ketone body level	increased liver triglyceride level
	Hmgcs2^em1(IMPC)Tcp/Hmgcs2^em1(IMPC)Tcp
	Hmgcs2^em1(IMPC)Tcp/Hmgcs2⁺

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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