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Slc6a3 Gene Detail
Summary
  • Symbol
    Slc6a3
  • Name
    solute carrier family 6 (neurotransmitter transporter, dopamine), member 3
  • Synonyms
    DAT, Dat1
  • Feature Type
    protein coding gene
  • IDs
    MGI:94862
    NCBI Gene: 13162
  • Gene Overview
    MyGene.info: SLC6A3
Location & Maps
more
  • Sequence Map
    Chr13:73536747-73578672 bp, + strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      41926 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 13, 40.10 cM
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    SLC6A3, solute carrier family 6 member 3
  • Vertebrate Orthologs
    8
  • Human Ortholog
    SLC6A3, solute carrier family 6 member 3
    Orthology source: HGNC, HomoloGene
  • Synonyms
    DAT, DAT1, PKDYS
  • Links
    NCBI Gene ID: 6531
    neXtProt AC: NX_Q01959

  • Chr Location
    5p15.3; chr5:1392790-1445428 (-)  GRCh38.p2
Human Diseases
more
  • Diseases
    4 with Slc6a3 mouse models; 2 with human SLC6A3 associations

Human Disease Mouse Models
       Attention Deficit-Hyperactivity Disorder; ADHD   OMIM: 143465 View 4 models
Gilles De La Tourette Syndrome; GTS   OMIM: 137580 View 1 model
Obsessive-Compulsive Disorder; OCD   OMIM: 164230 View 1 model
Schizophrenia; SCZD   OMIM: 181500 View 1 model
       Parkinsonism-Dystonia, Infantile; PKDYS   OMIM: 613135
Tobacco Addiction, Susceptibility to   OMIM: 188890
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    8 with disease annotations
  • References
    14 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    64 phenotypes from 14 alleles in 15 genetic backgrounds
    100 phenotypes from multigenic genotypes
    1 images
    210 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    22
  • Chemically induced (other)
    1
  • Endonuclease-mediated
    1
  • Gene trapped
    1
  • Targeted
    19
  • Genomic Mutations
    1 involving Slc6a3
  • Incidental Mutations
    Mutagenetix , APF
Homozygotes for targeted null mutations exhibit dwarfism, hyperactivity (especially in a novel environment), 5-fold higher extracellular dopamine levels, impaired spatial cognitive function, anterior pituitary hypoplasia, and failure to lactate.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    55
  • GO References
    15
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    149
  • Tissues
    136
  • cDNA Data
    10
  • Literature Summary
    50
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000021609 Ensembl Gene Model | MGI Sequence Detail 41926 C57BL/6J ±  kb
transcript ENSMUST00000022100 Ensembl | MGI Sequence Detail 3456 Not Applicable  
polypeptide ENSMUSP00000022100 Ensembl | MGI Sequence Detail 619 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    242 from dbSNP Build 142
  • RFLP
    1
Protein
Information
less
  • UniProt
    5 Sequences
  • Protein Ontology
    PR:000015188 sodium-dependent dopamine transporter
  • InterPro Domains
    IPR000175 Sodium:neurotransmitter symporter
    IPR002436 Sodium:neurotransmitter symporter, dopamine
Molecular
Reagents
less
  • All nucleic 17
    Genomic 1
    cDNA 11
    Primer pair 1
    Other 4

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-8798
References
more
  • Summaries
    All 290
    Developmental Gene Expression 50
    Diseases 14
    Gene Ontology 15
    Phenotypes 210
  • Earliest
    J:16820 Lossie AC, et al., Localization of the dopamine transporter gene, Dat1, on mouse chromosome 13. Mamm Genome. 1994 Feb;5(2):117-8
  • Latest
    J:231810 Pinto M, et al., Pioglitazone ameliorates the phenotype of a novel Parkinson's disease mouse model by reducing neuroinflammation. Mol Neurodegener. 2016;11:25
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
08/09/2016
MGI 6.05 		The Jackson Laboratory
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