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Symbol
Name
ID
Pus1
pseudouridine synthase 1
MGI:1929237
Phenotype annotations related to homeostasis/metabolism
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
Availability Mouse Genotype
Pus1em1(IMPC)J/Pus1em1(IMPC)J
Pus1tm1.1Mdf/Pus1tm1.1Mdf

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
04/16/2024
MGI 6.23
The Jackson Laboratory