Symbol
Name
ID

Pomgnt1
protein O-linked mannose beta 1,2-N-acetylglucosaminyltransferase
MGI:1915523

Phenotype annotations related to muscle

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	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
	Pomgnt1^{Gt(OST179231)Lex}/Pomgnt1^{Gt(OST179231)Lex}
	Pomgnt1^tm1Stk/Pomgnt1^tm1Stk

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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