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

Primary microcephaly

Secondary microcephaly

Drooling

Spasticity

Cerebral hypomyelination

Myoclonus

EEG abnormality

Abnormal nonverbal communicative behavior

Reduced eye contact

Absent speech

Delayed speech and language development

Lack of spontaneous play

Impaired ability to form peer relationships

Autism

Autism with high cognitive abilities

Inflexible adherence to routines

Motor stereotypy

Restrictive behavior

Intellectual disability

Generalized hyperreflexia

Reduced brain N-acetyl aspartate level by MRS

Epileptic encephalopathy

Global developmental delay

Delayed ability to roll over

Delayed ability to walk

Persistent head lag

Seizure

Generalized-onset seizure

Febrile seizure (within the age range of 3 months to 6 years)

Febrile status epilepticus

Tonic seizure

Status epilepticus

Disease(s) Associated with SLC25A12

Asperger syndrome

autistic disorder

developmental and epileptic encephalopathy 39

Mouse Phenotypes		convulsive seizures	abnormal brain morphology	enlarged lateral ventricles	decreased striatum size	abnormal GABAergic neuron morphology	abnormal nervous system physiology	abnormal myelination	abnormal synaptic dopamine release
Availability	Mouse Genotype	convulsive seizures	abnormal brain morphology	enlarged lateral ventricles	decreased striatum size	abnormal GABAergic neuron morphology	abnormal nervous system physiology	abnormal myelination	abnormal synaptic dopamine release
	Slc25a12^{Gt(OST123999)Lex}/Slc25a12^{Gt(OST123999)Lex}
	Slc25a12^{Gt(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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