Symbol
Name
ID

Pomt1
protein-O-mannosyltransferase 1
MGI:2138994

Phenotype annotations related to muscle

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

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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