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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
  • Alliance
    gene page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:34919084-35069878 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 5, 17.92 cM
  • Mapping Data
    9 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2607 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
  • RFLP
    4
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_96067
 protein coding gene Chr5:34919084-35069878 (+)
129S1/SvImJ MGP_129S1SvImJ_G0029471
 protein coding gene Chr5:33012806-33167009 (+)
A/J MGP_AJ_G0029438
 protein coding gene Chr5:31924700-32084539 (+)
AKR/J MGP_AKRJ_G0029387
 protein coding gene Chr5:33155955-33316938 (+)
BALB/cJ MGP_BALBcJ_G0029448
 protein coding gene Chr5:32457506-32610278 (+)
C3H/HeJ MGP_C3HHeJ_G0029170
 protein coding gene Chr5:33187069-33342519 (+)
C57BL/6NJ MGP_C57BL6NJ_G0029902
 protein coding gene Chr5:34898690-35062639 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0027139
 protein coding gene Chr5:29706115-29853558 (+)
CAST/EiJ MGP_CASTEiJ_G0028579
 protein coding gene Chr5:32260704-32417653 (+)
CBA/J MGP_CBAJ_G0029138
 protein coding gene Chr5:35701297-35872347 (+)
DBA/2J MGP_DBA2J_G0029286
 protein coding gene Chr5:32091038-32239328 (+)
FVB/NJ MGP_FVBNJ_G0029245
 protein coding gene Chr5:31532139-31681890 (+)
LP/J MGP_LPJ_G0029371
 protein coding gene Chr5:33430403-33587880 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0029275
 protein coding gene Chr5:36539658-36707928 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0029935
 protein coding gene Chr5:32670288-32820592 (+)
PWK/PhJ MGP_PWKPhJ_G0028304
 protein coding gene Chr5:31240208-31395098 (+)
SPRET/EiJ MGP_SPRETEiJ_G0028135
 protein coding gene Chr5:32100261-32259999 (+)
WSB/EiJ MGP_WSBEiJ_G0028660
 protein coding gene Chr5:32733753-32884859 (+)



Homology
more
  • Human Ortholog
    HTT, huntingtin
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    HTT, huntingtin
  • Synonyms
    HD, IT15, LOMARS
  • Links
    NCBI Gene ID: 3064
    neXtProt AC: NX_P42858
    UniProt: P42858

  • Chr Location
    4p16.3; chr4:3041363-3243960 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Htt mouse models; 2 with human HTT associations

Human Disease Mouse Models
      
IDs
 View 21 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    20 with disease annotations
  • References
    24 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    150 phenotypes from 21 alleles in 20 genetic backgrounds
    57 phenotypes from multigenic genotypes
    436 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.
Homozygous knockout mutant embryos gastrulate abnormally and die in utero. Conditional mutant mice are small with progressive neurodegeneration. Knock-in mice carrying 20-150 CAG repeat units variably mimic Huntington disease with late-onset motor defects, reactive gliosis and neuronal inclusions.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    199
  • GO References
    58
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    826
  • Tissues
    59
  • cDNA Data
    129
  • Literature Summary
    12
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 15194 NCBI Gene Model | MGI Sequence Detail 150795 C57BL/6J ±  kb
    transcript NM_010414 RefSeq | MGI Sequence Detail 13237 ZRU/MplStud  
    polypeptide P42859 UniProt | EBI | MGI Sequence Detail 3119 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 146
      Genomic 7
      cDNA 132
      Primer pair 3
      Other 4

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-10687, MGI:2140822, MGI:2441905
    References
    more
    • Summaries
      All 659
      Developmental Gene Expression 12
      Diseases 24
      Gene Ontology 58
      Phenotypes 436
    • Earliest
      J:5021 Batchelor AL, et al., A comparison of the mutagenic effectiveness of chronic neutron- and gamma-irradiation of mouse spermatogonia. Mutat Res. 1966 Jun;3(3):218-29
    • Latest
      J:355292 Wu C, et al., Altered anterograde axonal transport of mitochondria in cultured striatal neurons of a knock-in mouse model of Huntington's disease. Biochem Biophys Res Commun. 2024 Jan 8;691:149246
    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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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/17/2024
    MGI 6.24     		The Jackson Laboratory