Symbol Name ID |
Slc6a5
solute carrier family 6 (neurotransmitter transporter, glycine), member 5 MGI:105090 |
* | 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 |
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Availability | Mouse Genotype | |||||||||
Slc6a5m1J/Slc6a5m1J | ||||||||||
Slc6a5tm1Betz/Slc6a5tm1Betz | * | |||||||||
Slc6a5trsl/Slc6a5trsl |
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 05/21/2024 MGI 6.23 |
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