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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 muscle weakness
Flexion contracture
Congenital contracture
Hypertonia
Generalized hypotonia
Neonatal hypotonia
Severe muscular hypotonia
Difficulty climbing stairs
Difficulty walking
Easy fatigability
Muscle weakness
Generalized muscle weakness
Poor head control
Proximal muscle weakness
Gowers sign
Hypoglycosylation of alpha-dystroglycan
Increased variability in muscle fiber diameter
Centrally nucleated skeletal muscle fibers
Type 1 muscle fiber predominance
Generalized amyotrophy
Generalized limb muscle atrophy
Skeletal muscle hypertrophy
Muscular dystrophy
Congenital muscular dystrophy
Myopathy
Disease(s) Associated with POMT1
autosomal recessive limb-girdle muscular dystrophy type 2K
congenital muscular dystrophy-dystroglycanopathy type A1
muscular dystrophy-dystroglycanopathy

Mouse Phenotypes
increased vasodilation
Availability Mouse Genotype
Pomt1Gt(OST194127)Lex/Pomt1+

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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Funding Information
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last database update
02/23/2021
MGI 6.16
The Jackson Laboratory