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Htt Gene Detail
Summary
  • Symbol
    Htt
  • Name
    huntingtin
  • Synonyms
    C430023I11Rik, HD, Hdh, htt, huntingtin, IT15
  • Feature Type
    protein coding gene
  • IDs
    MGI:96067
    NCBI Gene: 15194
  • Gene Overview
    MyGene.info: HTT
Location & Maps
more
  • Sequence Map
    Chr5:34761740-34912534 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      150795 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 5, 17.92 cM
  • Mapping Data
    9 experiments
Homology
more
  • Human Ortholog
    HTT, huntingtin
  • Vertebrate Orthologs
    9
  • Human Ortholog
    HTT, huntingtin
    Orthology source: HGNC, HomoloGene
  • Synonyms
    HD, IT15
  • Links
    NCBI Gene ID: 3064
    neXtProt AC: NX_P42858

  • Chr Location
    4p16.3; chr4:3074510-3243960 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 1593
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: HTT
  • Gene Tree
    Htt
Human Diseases
more
  • Diseases
    1 with Htt mouse models; 1 with human HTT associations

Human Disease Mouse Models
       Huntington Disease; HD   OMIM: 143100 View 52 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    45 with disease annotations
  • References
    154 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    132 phenotypes from 22 alleles in 18 genetic backgrounds
    188 phenotypes from multigenic genotypes
    2 images
    679 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
    116
  • Chemically induced (ENU)
    1
  • Chemically induced (other)
    2
  • Gene trapped
    37
  • Radiation induced
    6
  • Spontaneous
    1
  • Targeted
    38
  • Transgenic
    31
  • Genomic Mutations
    10 involving Htt
  • Incidental Mutations
Null mutants gastrulate abnormally and die in utero. Conditional mutants are small with progressive neurodegeneration. Knock-ins of 20-150 CAG repeat units variably mimic Huntington's with late-onset motor defects, reactive gliosis and neuronal inclusions.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
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
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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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000023182 VEGA Gene Model | MGI Sequence Detail 150795 C57BL/6J ±  kb
transcript OTTMUST00000056080 VEGA | MGI Sequence Detail 13215 Not Applicable  
polypeptide OTTMUSP00000026909 VEGA | MGI Sequence Detail 3120 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    577 from dbSNP Build 142
  • PCR
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 141
    Genomic 7
    cDNA 130
    Primer pair 3
    Other 1

    Microarray probesets 5
Other
Accession IDs
less
MGD-MRK-10687, MGI:2140822, MGI:2441905
References
more
  • Summaries
    All 340
    Developmental Gene Expression 8
    Diseases 154
    Gene Ontology 52
    Phenotypes 679
  • Earliest
    J:3574 Goldberg YP, et al., Cloning and mapping of the alpha-adducin gene close to D4S95 and assessment of its relationship to Huntington disease. Hum Mol Genet. 1992 Dec;1(9):669-75
  • Latest
    J:229738 Kumar A, et al., Allelic series of Huntington's disease knock-in mice reveals expression discorrelates. Hum Mol Genet. 2016 Feb 14;

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/15/2016
MGI 6.04
The Jackson Laboratory