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Symbol
Name
ID

Otc
ornithine transcarbamylase
MGI:97448

Phenotype annotations related to homeostasis/metabolism

Darker colors indicate more annotations

Human Phenotypes	Low plasma citrulline	Hyperglutaminemia	Elevated circulating uracil concentration	Hyperammonemia	Episodic ammonia intoxication	Elevated circulating alanine aminotransferase concentration	Elevated circulating aspartate aminotransferase concentration	Reduced hepatic ornithine transcarbamylase activity	Respiratory alkalosis	Cerebral edema	Oroticaciduria
Disease(s) Associated with OTC
ornithine carbamoyltransferase deficiency

Mouse Phenotypes

abnormal homeostasis

abnormal amino acid level

decreased circulating arginine level

abnormal circulating amino acid level

decreased circulating citrulline level

increased circulating glutamine level

decreased circulating ornithine level

increased glutamine level

decreased ornithine level

increased circulating ammonia level

abnormal blood homeostasis

increased circulating triglyceride level

increased circulating alanine transaminase level

abnormal body temperature homeostasis

abnormal protein level

oroticaciduria

abnormal metabolism

abnormal enzyme/coenzyme activity

decreased ornithine carbamoyltransferase activity

abnormal nucleotide metabolism

Availability

Mouse Genotype

Otc^spf/Otc^spf

Otc^em1(IMPC)Tcp/Otc⁺

Otc^spf-ash/Otc⁺

Otc^spf/Otc⁺

Otc^spf-ash/Y

Otc^spf-J/Y

Otc^spf/Y

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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