Symbol Name ID |
Pomt1
protein-O-mannosyltransferase 1 MGI:2138994 |
Darker colors indicate more annotations |
Human Phenotypes | Facial palsy |
Macroglossia |
Calf muscle hypertrophy |
Thigh hypertrophy |
Triceps weakness |
Limb-girdle muscular dystrophy |
Limb-girdle muscle weakness |
Flexion contracture |
Congenital contracture |
Hypotonia |
Neonatal hypotonia |
Severe muscular hypotonia |
Difficulty climbing stairs |
Difficulty walking |
Easy fatigability |
Muscle weakness |
Proximal muscle weakness |
Gowers sign |
Myotonia |
Hypoglycosylation of alpha-dystroglycan |
Type 1 muscle fiber predominance |
Increased variability in muscle fiber diameter |
Central core regions in muscle fibers |
Centrally nucleated skeletal muscle fibers |
Generalized amyotrophy |
Muscular dystrophy |
Myopathy |
Disease(s) Associated with POMT1 | |||||||||||||||||||||||||||
autosomal recessive limb-girdle muscular dystrophy type 2K | |||||||||||||||||||||||||||
congenital muscular dystrophy-dystroglycanopathy type A1 | |||||||||||||||||||||||||||
muscular dystrophy | |||||||||||||||||||||||||||
muscular dystrophy-dystroglycanopathy type B1 |
Mouse Phenotypes | increased vasodilation |
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Availability | Mouse Genotype | |
Pomt1Gt(OST194127)Lex/Pomt1+ |
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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