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Symbol
Name
ID

Ass1
argininosuccinate synthetase 1
MGI:88090

Phenotype annotations related to homeostasis/metabolism

Darker colors indicate more annotations

Human Phenotypes	Elevated plasma citrulline	Hypoargininemia	Hyperglutaminemia	Hyperammonemia	Episodic ammonia intoxication	Reduced tissue argininosuccinate synthetase activity	Respiratory alkalosis	Cerebral edema	Oroticaciduria
Disease(s) Associated with ASS1
classic citrullinemia

Mouse Phenotypes		abnormal amino acid level	decreased circulating arginine level	abnormal circulating amino acid level	increased circulating citrulline level	decreased circulating ornithine level	increased circulating ornithine level	decreased circulating taurine level	increased circulating taurine level	increased circulating ammonia level	abnormal enzyme/coenzyme activity
Availability	Mouse Genotype	abnormal amino acid level	decreased circulating arginine level	abnormal circulating amino acid level	increased circulating citrulline level	decreased circulating ornithine level	increased circulating ornithine level	decreased circulating taurine level	increased circulating taurine level	increased circulating ammonia level	abnormal enzyme/coenzyme activity
	Ass1^bar/Ass1^bar
	Ass1^fold/Ass1^fold
	Ass1^tm1Bay/Ass1^tm1Bay
	Ass1^bar/Ass1^fold
	Ass1^tm1Bay/Ass1⁺
	Ass1^tm1.1Ekoe/Ass1^tm1.1Ekoe Tg(Vil1-cre)997Gum/0 (conditional)

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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