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Symbol Name ID |
Pus1
pseudouridine synthase 1 MGI:1929237 |
| Darker colors indicate more annotations |
| Human Phenotypes | Scapular winging |
Hypotonia |
Generalized hypotonia |
Cytochrome C oxidase-negative muscle fibers |
Muscle weakness |
Progressive muscle weakness |
Gowers sign |
Ragged-red muscle fibers |
Generalized limb muscle atrophy |
| Disease(s) Associated with PUS1 | |||||||||
| myopathy, lactic acidosis, and sideroblastic anemia 1 |
| Mouse Phenotypes | decreased skeletal muscle fiber size |
decreased skeletal muscle mass |
abnormal muscle physiology |
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| Availability | Mouse Genotype | |||
| 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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