Symbol
Name
ID

Slc25a1
solute carrier family 25 (mitochondrial carrier, citrate transporter), member 1
MGI:1345283

Phenotype annotations related to nervous system

Darker colors indicate more annotations

Human Phenotypes

Microcephaly

Frontalis muscle weakness

Dysphagia

Difficulty walking

Easy fatigability

Bulbar palsy

Fatigable weakness

Delayed myelination

Ventriculomegaly

Cerebellar hypoplasia

Ataxia

EEG with polyspike wave complexes

Reduced eye contact

Irritability

Choking episodes

Intellectual disability

Central sleep apnea

Obstructive sleep apnea

Areflexia

Hyporeflexia

Tip-toe gait

Waddling gait

Encephalopathy

Global developmental delay

Motor delay

Motor polyneuropathy

Seizure

Disease(s) Associated with SLC25A1

combined D-2- and L-2-hydroxyglutaric aciduria

congenital myasthenic syndrome

Mouse Phenotypes		abnormal neural tube closure	abnormal forebrain morphology	abnormal hindbrain morphology	exencephaly
Availability	Mouse Genotype
	Slc25a1^{tm1b(EUCOMM)Wtsi}/Slc25a1^{tm1b(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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