Symbol
Name
ID

Slc1a2
solute carrier family 1 (glial high affinity glutamate transporter), member 2
MGI:101931

Phenotype annotations related to nervous system

*	Aspects of the system are reported to show a normal phenotype.
	Darker colors indicate more annotations

Human Phenotypes

Microcephaly

Spasticity

Delayed CNS myelination

Hypoplasia of the corpus callosum

Cerebral atrophy

Babinski sign

Tetraparesis

EEG abnormality

Hypsarrhythmia

Absent speech

Irritability

Lethargy

Intellectual disability, profound

Intellectual disability, severe

Inability to walk

Epileptic encephalopathy

Developmental regression

Global developmental delay

Bilateral tonic-clonic seizure

Focal tonic seizure

Generalized tonic seizure

Epileptic spasm

Myoclonic seizure

Myoclonic status epilepticus

Status epilepticus without prominent motor symptoms

Disease(s) Associated with SLC1A2

developmental and epileptic encephalopathy 41

Mouse Phenotypes		nervous system phenotype	increased susceptibility to pharmacologically induced seizures	seizures	convulsive seizures	cerebral edema	abnormal hippocampus CA1 region morphology	hippocampus pyramidal cell degeneration	abnormal telencephalon morphology	abnormal brain wave pattern	abnormal synaptic physiology
Availability	Mouse Genotype	nervous system phenotype		seizures	convulsive seizures	cerebral edema	abnormal hippocampus CA1 region morphology	hippocampus pyramidal cell degeneration	abnormal telencephalon morphology	abnormal brain wave pattern	abnormal synaptic physiology
	Slc1a2^tm1Kta/Slc1a2^tm1Kta
	Slc1a2^tm1.1Ncd/Slc1a2^tm1.1Ncd Tg(Nes-cre)1Kln/0 (conditional)
	Slc1a2^tm1.1Pros/Slc1a2^tm1.1Pros Tg(GFAP-cre/ERT2)13Kdmc/0 (conditional)	*
	Slc1a2^tm1.1Pros/Slc1a2^tm1.1Pros Tg(Syn1-cre)671Jxm/0 (conditional)

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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