Symbol Name ID |
Pomgnt1
protein O-linked mannose beta 1,2-N-acetylglucosaminyltransferase MGI:1915523 |
Darker colors indicate more annotations |
Human Phenotypes | Calf muscle hypertrophy |
Limb-girdle muscular dystrophy |
Spasticity |
Generalized hypotonia |
Severe muscular hypotonia |
Difficulty climbing stairs |
Muscle weakness |
Generalized muscle weakness |
Proximal muscle weakness |
Gowers sign |
Myotonia |
Increased variability in muscle fiber diameter |
Central core regions in muscle fibers |
Increased endomysial connective tissue |
Skeletal muscle hypertrophy |
Muscular dystrophy |
Myopathy |
Disease(s) Associated with POMGNT1 | |||||||||||||||||
autosomal recessive limb-girdle muscular dystrophy type 2O | |||||||||||||||||
congenital muscular dystrophy-dystroglycanopathy type A3 | |||||||||||||||||
muscular dystrophy | |||||||||||||||||
muscular dystrophy-dystroglycanopathy type B3 |
Mouse Phenotypes | abnormal skeletal muscle satellite cell proliferation |
abnormal tongue muscle morphology |
abnormal skeletal muscle fiber morphology |
decreased skeletal muscle fiber size |
increased variability of skeletal muscle fiber size |
centrally nucleated skeletal muscle fibers |
decreased skeletal muscle fiber number |
dystrophic muscle |
abnormal muscle physiology |
abnormal muscle regeneration |
|
Availability | Mouse Genotype | ||||||||||
Pomgnt1Gt(OST179231)Lex/Pomgnt1Gt(OST179231)Lex | |||||||||||
Pomgnt1tm1Stk/Pomgnt1tm1Stk |
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 08/02/2024 MGI 6.24 |
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