Symbol
Name
ID

Gch1
GTP cyclohydrolase 1
MGI:95675

Phenotype annotations related to homeostasis/metabolism

Darker colors indicate more annotations

Human Phenotypes

Hyperphenylalaninemia

Transient hyperphenylalaninemia

Unconjugated hyperbilirubinemia

Elevated circulating creatinine concentration

Increased CSF phenylalanine concentration

Decreased CSF homovanillic acid concentration

Increased circulating lactate dehydrogenase concentration

Type II diabetes mellitus

Insulin resistance

Recurrent fever

Hematuria

Decreased urinary biopterin level

Decreased urinary neopterin level

Elevated urinary sulfatide level

Disease(s) Associated with GCH1

BH4-deficient hyperphenylalaninemia B

dystonia 5

sickle cell anemia

type 2 diabetes mellitus

Mouse Phenotypes		increased phenylalanine level	decreased nervous system dopamine level	decreased dopamine level	decreased noradrenaline level	decreased serotonin level	decreased brain tyrosine 3-monooxygenase activity
Availability	Mouse Genotype	increased phenylalanine level	decreased nervous system dopamine level	decreased dopamine level	decreased noradrenaline level	decreased serotonin level	decreased brain tyrosine 3-monooxygenase activity
	Gch1^em1Ypt/Gch1^em1Ypt
	Gch1^tm1.2Drg/Gch1^tm1.2Drg

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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