Symbol
Name
ID

Ndufs4
NADH:ubiquinone oxidoreductase core subunit S4
MGI:1343135

Phenotype annotations related to homeostasis/metabolism

Darker colors indicate more annotations

Human Phenotypes

Decreased activity of mitochondrial respiratory chain

Decreased activity of mitochondrial complex I

Decreased activity of mitochondrial complex II

Decreased activity of mitochondrial complex III

Decreased activity of mitochondrial complex IV

Decreased activity of the pyruvate dehydrogenase complex

Hyperalaninemia

Increased CSF lactate

Abnormal circulating enzyme concentration or activity

Decreased circulating biotinidase concentration

Hypoglycemia

Increased circulating lactate concentration

Ketoacidosis

Lactic acidosis

Renal tubular acidosis

3-Methylglutaconic aciduria

Ethylmalonic aciduria

Methylmalonic aciduria

Generalized aminoaciduria

Lacticaciduria

Complex organic aciduria

Disease(s) Associated with NDUFS4

Leigh disease

Mouse Phenotypes		abnormal circulating amino acid level	increased circulating carnitine level	increased circulating glycine level	increased circulating phenylalanine level	abnormal blood homeostasis	decreased body temperature	abnormal enzyme/coenzyme activity
Availability	Mouse Genotype	abnormal circulating amino acid level	increased circulating carnitine level	increased circulating glycine level	increased circulating phenylalanine level	abnormal blood homeostasis	decreased body temperature	abnormal enzyme/coenzyme activity
	Ndufs4^fky/Ndufs4^fky
	Ndufs4^tm1.1Rpa/Ndufs4^tm1.1Rpa
	Ndufs4^tm1Capt/Ndufs4⁺
	Ndufs4^tm1Rpa/Ndufs4^tm1Rpa Tg(Nes-cre)1Kln/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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