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Symbol
Name
ID
Gmppa
GDP-mannose pyrophosphorylase A
MGI:1916330
Phenotype annotations related to muscle
Darker colors indicate more annotations
Human Phenotypes
Spasticity
Hypotonia
Generalized hypotonia
Disease(s) Associated with GMPPA
alacrima, achalasia, and impaired intellectual development syndrome

Mouse Phenotypes
increased skeletal muscle cell apoptosis
abnormal Z line morphology
abnormal skeletal muscle fiber morphology
decreased skeletal muscle fiber diameter
centrally nucleated skeletal muscle fibers
abnormal skeletal muscle morphology
decreased skeletal muscle mass
progressive muscle weakness
myopathy
Availability Mouse Genotype
Gmppatm1d(EUCOMM)Wtsi/Gmppatm1d(EUCOMM)Wtsi

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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last database update
04/16/2024
MGI 6.23
The Jackson Laboratory