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Symbol
Name
ID
Slc25a12
solute carrier family 25 (mitochondrial carrier, Aralar), member 12
MGI:1926080
Phenotype annotations related to nervous system
Darker colors indicate more annotations
Human Phenotypes
Spasticity
Cerebral hypomyelination
Absent speech
Hyperreflexia
Poor eye contact
Epileptic encephalopathy
Global developmental delay
Seizures
Disease(s) Associated with SLC25A12
early infantile epileptic encephalopathy 39

Mouse Phenotypes
convulsive seizures
decreased gamma-aminobutyric acid level
decreased serotonin level
abnormal brain morphology
enlarged lateral ventricles
decreased striatum area
abnormal GABAergic neuron morphology
abnormal nervous system physiology
abnormal myelination
abnormal synaptic dopamine release
Availability Mouse Genotype
Slc25a12Gt(OST123999)Lex/Slc25a12Gt(OST123999)Lex
Slc25a12Gt(OST123999)Lex/Slc25a12+

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
08/13/2019
MGI 6.14
The Jackson Laboratory