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Symbol
Name
ID
Gmppa
GDP-mannose pyrophosphorylase A
MGI:1916330
Phenotype annotations related to nervous system
Darker colors indicate more annotations
Human Phenotypes
Orthostatic hypotension
Dysphagia
Spasticity
Ataxia
Delayed speech and language development
Intellectual disability
Hyperreflexia
Global developmental delay
Somatic sensory dysfunction
Disease(s) Associated with GMPPA
alacrima, achalasia, and impaired intellectual development syndrome

Mouse Phenotypes
hippocampus pyramidal cell degeneration
abnormal neocortex morphology
Purkinje cell degeneration
decreased nerve conduction velocity
decreased prepulse inhibition
Availability Mouse Genotype
Gmppaem1(IMPC)Tcp/Gmppaem1(IMPC)Tcp
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