Symbol Name ID |
Pus1
pseudouridine synthase 1 MGI:1929237 |
Darker colors indicate more annotations |
Human Phenotypes | Decreased activity of mitochondrial complex I |
Decreased activity of mitochondrial complex IV |
Increased circulating ferritin concentration |
Increased circulating lactate concentration |
Lactic acidosis |
Exercise intolerance |
Disease(s) Associated with PUS1 | ||||||
myopathy, lactic acidosis, and sideroblastic anemia 1 |
Mouse Phenotypes | impaired exercise endurance |
increased circulating bilirubin level |
increased circulating phosphate level |
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Availability | Mouse Genotype | |||
Pus1em1(IMPC)J/Pus1em1(IMPC)J | ||||
Pus1tm1.1Mdf/Pus1tm1.1Mdf |
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 04/16/2024 MGI 6.23 |
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