|
Symbol Name ID |
Slc6a3
solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 MGI:94862 |
| * | Aspects of the system are reported to show a normal phenotype. |
| Darker colors indicate more annotations |
| Human Phenotypes | Increased CSF homovanillic acid concentration |
Abnormal pyramidal tract morphology |
Bradykinesia |
Parkinsonism |
Cerebral palsy |
Chorea |
Tremor |
Abnormal pyramidal sign |
Absent speech |
Irritability |
Hyperactivity |
Attention deficit hyperactivity disorder |
Hypokinesia |
Dyskinesia |
Orofacial dyskinesia |
Dystonia |
Oromandibular dystonia |
Limb dystonia |
Oculogyric crisis |
Hyperkinetic movements |
Global developmental delay |
Delayed gross motor development |
| Disease(s) Associated with SLC6A3 | ||||||||||||||||||||||
| attention deficit hyperactivity disorder | ||||||||||||||||||||||
| classic dopamine transporter deficiency syndrome |
| Mouse Phenotypes | nervous system phenotype |
decreased susceptibility to dopaminergic neuron neurotoxicity |
abnormal adenohypophysis morphology |
decreased lactotroph cell number |
decreased somatotroph cell number |
adenohypophysis hypoplasia |
small pituitary gland |
pituitary intermediate lobe hypoplasia |
abnormal pituitary gland physiology |
abnormal pituitary secretion |
hypopituitarism |
abnormal dopaminergic neuron morphology |
decreased dopaminergic neuron number |
abnormal action potential |
abnormal neuron physiology |
abnormal CNS synaptic transmission |
abnormal inhibitory postsynaptic currents |
enhanced long-term potentiation |
abnormal miniature inhibitory postsynaptic current frequency |
abnormal synaptic dopamine release |
decreased neurotransmitter release |
abnormal neurotransmitter uptake |
|
| Availability | Mouse Genotype | ||||||||||||||||||||||
| Slc6a3tm1.1Jaja/Slc6a3tm1.1Jaja | |||||||||||||||||||||||
| Slc6a3tm1Hhg/Slc6a3tm1Hhg | |||||||||||||||||||||||
| Slc6a3tm1Mca/Slc6a3tm1Mca | * | ||||||||||||||||||||||
| Slc6a3tm1Rbl/Slc6a3tm1Rbl | |||||||||||||||||||||||
| Slc6a3tm2Mca/Slc6a3tm2Mca | * | ||||||||||||||||||||||
| Slc6a3tm2(tTA)Xz/Slc6a3tm3(tetO)Xz | |||||||||||||||||||||||
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 |
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