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Symbol
Name
ID
Slc6a5
solute carrier family 6 (neurotransmitter transporter, glycine), member 5
MGI:105090
Phenotype annotations related to nervous system
*Aspects of the system are reported to show a normal phenotype.
Darker colors indicate more annotations
Human Phenotypes
Exaggerated startle response
Myoclonus
Brisk reflexes
Global developmental delay
Bilateral tonic-clonic seizure
Disease(s) Associated with SLC6A5
hyperekplexia 3

Mouse Phenotypes
nervous system phenotype
tonic seizures
abnormal neuromuscular synapse morphology
abnormal neuron physiology
abnormal CNS synaptic transmission
abnormal inhibitory postsynaptic currents
abnormal miniature inhibitory postsynaptic currents
decreased miniature inhibitory postsynaptic current amplitude
decreased miniature inhibitory postsynaptic current frequency
Availability Mouse Genotype
Slc6a5m1J/Slc6a5m1J
Slc6a5tm1Betz/Slc6a5tm1Betz *
Slc6a5trsl/Slc6a5trsl

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
04/23/2024
MGI 6.23
The Jackson Laboratory