Symbol
Name
ID

Slc6a8
solute carrier family 6 (neurotransmitter transporter, creatine), member 8
MGI:2147834

Phenotype annotations related to nervous system

Darker colors indicate more annotations

Human Phenotypes

Microcephaly

Aganglionic megacolon

Spasticity

Delayed myelination

Hypoplasia of the corpus callosum

Poor hand-eye coordination

Speech apraxia

Delayed speech and language development

Reduced social reciprocity

Aggressive behavior

Attention deficit hyperactivity disorder

Motor stereotypy

Intellectual disability

Dystonia

Gait disturbance

Broad-based gait

Reduced brain creatine level by MRS

Global developmental delay

Motor delay

Seizure

Disease(s) Associated with SLC6A8

cerebral creatine deficiency syndrome 1

Mouse Phenotypes		abnormal neuron proliferation	microgliosis	abnormal dentate gyrus morphology	decreased hippocampus volume	abnormal GABAergic neuron morphology	abnormal synapse morphology
Availability	Mouse Genotype	abnormal neuron proliferation	microgliosis	abnormal dentate gyrus morphology	decreased hippocampus volume	abnormal GABAergic neuron morphology	abnormal synapse morphology
	Slc6a8^tm1.2Lbar/Y
	Slc6a8^tm1.1Lbar/Y Tg(Nes-cre)1Kln/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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