Symbol Name ID |
Slc25a4
solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member 4 MGI:1353495 |
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 |
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Availability | Mouse Genotype | ||||||||||
Slc25a4tm1a(EUCOMM)Wtsi/Slc25a4tm1a(EUCOMM)Wtsi | |||||||||||
Slc25a4tm2Dwa/Slc25a4tm2Dwa |
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 08/21/2024 MGI 6.24 |
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