About   Help   FAQ
Symbol
Name
ID
Pus1
pseudouridine synthase 1
MGI:1929237
Phenotype annotations related to muscle
Darker colors indicate more annotations
Human Phenotypes
Generalized amyotrophy
Generalized limb muscle atrophy
Exercise intolerance
Progressive muscle weakness
Respiratory insufficiency due to muscle weakness
Cytochrome C oxidase-negative muscle fibers
Disease(s) Associated with PUS1
myopathy, lactic acidosis, and sideroblastic anemia

Mouse Phenotypes
decreased skeletal muscle fiber size
decreased skeletal muscle mass
abnormal muscle physiology
Availability Mouse Genotype
Pus1tm1.1Mdf/Pus1tm1.1Mdf

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
01/09/2018
MGI 6.11
The Jackson Laboratory