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Symbol
Name
ID
Ppp3ca
protein phosphatase 3, catalytic subunit, alpha isoform
MGI:107164
Phenotype annotations related to nervous system
Darker colors indicate more annotations
Human Phenotypes
Spasticity
Delayed CNS myelination
Reduced cerebral white matter volume
Cerebral atrophy
Multifocal epileptiform discharges
Hypsarrhythmia
Absent speech
Intellectual disability
Unsteady gait
Epileptic encephalopathy
Developmental regression
Global developmental delay
Seizure
Bilateral tonic-clonic seizure
Atypical absence seizure
Focal motor seizure
Epileptic spasm
Myoclonic seizure
Tonic seizure
Status epilepticus
Disease(s) Associated with PPP3CA
developmental and epileptic encephalopathy 91

Mouse Phenotypes
abnormal hippocampal mossy fiber morphology
Availability Mouse Genotype
Ppp3catm1Jse/Ppp3catm1Jse

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
05/14/2024
MGI 6.23
The Jackson Laboratory