Symbol
Name
ID

Cbs
cystathionine beta-synthase
MGI:88285

Phenotype annotations related to homeostasis/metabolism

Darker colors indicate more annotations

Human Phenotypes

Abnormality of metabolism/homeostasis

Hypermethioninemia

Hyperhomocystinemia

Hyperbilirubinemia

Increased LDL cholesterol concentration

Hypercholesterolemia

Hypertriglyceridemia

Elevated circulating C-reactive protein concentration

Elevated circulating hepatic transaminase concentration

Reduced cystathionine beta-synthase activity in cultured fibroblasts

Glucose intolerance

Diabetes mellitus

Type II diabetes mellitus

Impaired glucose tolerance

Fever

Abnormality of amino acid metabolism

Hepatic steatosis

Homocystinuria

Methioninuria

Disease(s) Associated with CBS

coronary artery disease

homocystinuria

malaria

neural tube defect

Mouse Phenotypes		abnormal amino acid level	abnormal circulating amino acid level	abnormal circulating homocysteine level	increased circulating homocysteine level	decreased circulating taurine level	increased circulating progesterone level	hemosiderosis	increased alpha-fetoprotein level	abnormal interleukin level	abnormal tumor necrosis factor level
Availability	Mouse Genotype	abnormal amino acid level	abnormal circulating amino acid level	abnormal circulating homocysteine level	increased circulating homocysteine level	decreased circulating taurine level	increased circulating progesterone level	hemosiderosis	increased alpha-fetoprotein level	abnormal interleukin level	abnormal tumor necrosis factor level
	Cbs^tm1Unc/Cbs^tm1Unc
	Cbs^tm1Unc/Cbs⁺

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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