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Symbol
Name
ID

Cps1
carbamoyl-phosphate synthetase 1
MGI:891996

Phenotype annotations related to homeostasis/metabolism

Darker colors indicate more annotations

Human Phenotypes	Low plasma citrulline	Hypoargininemia	Hyperammonemia	Episodic ammonia intoxication	Respiratory alkalosis	Cerebral edema	Nonimmune hydrops fetalis	Pleural effusion
Disease(s) Associated with CPS1	Low plasma citrulline	Hypoargininemia	Hyperammonemia	Episodic ammonia intoxication	Respiratory alkalosis	Cerebral edema	Nonimmune hydrops fetalis	Pleural effusion
carbamoyl phosphate synthetase I deficiency disease
persistent fetal circulation syndrome

Mouse Phenotypes		increased circulating ammonia level	increased circulating HDL cholesterol level	increased circulating cholesterol level	decreased circulating potassium level
Availability	Mouse Genotype	increased circulating ammonia level	increased circulating HDL cholesterol level	increased circulating cholesterol level	decreased circulating potassium level
	Cps1^tm1Mw/Cps1^tm1Mw
	Cps1^em1(IMPC)H/Cps1⁺

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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