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Symbol
Name
ID
Slc25a4
solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member 4
MGI:1353495
Phenotype annotations related to homeostasis/metabolism
Darker colors indicate more annotations
Human Phenotypes
Decreased activity of mitochondrial complex I
Decreased activity of mitochondrial complex II
Decreased activity of mitochondrial complex III
Decreased activity of mitochondrial complex IV
Hyperalaninemia
Elevated circulating creatine kinase concentration
Highly elevated creatine kinase
Increased CSF lactate
Increased circulating lactate concentration
Lactic acidosis
Severe lactic acidosis
3-Methylglutaconic aciduria
Ketonuria
Myoglobinuria
Organic aciduria
Exercise intolerance
Disease(s) Associated with SLC25A4
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2
mitochondrial DNA depletion syndrome 12a
mitochondrial DNA depletion syndrome 12b
mitochondrial myopathy

Mouse Phenotypes
increased circulating alanine level
abnormal blood homeostasis
increased blood urea nitrogen level
increased circulating insulin level
increased circulating lactate level
increased circulating calcium level
increased circulating alkaline phosphatase level
improved glucose tolerance
decreased circulating chloride level
abnormal exercise endurance
Availability Mouse Genotype
Slc25a4tm1a(EUCOMM)Wtsi/Slc25a4tm1a(EUCOMM)Wtsi
Slc25a4tm2Dwa/Slc25a4tm2Dwa

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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last database update
05/14/2024
MGI 6.23
The Jackson Laboratory