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Htt
Gene Detail
Symbol

Name
ID
Htt
huntingtin
MGI:96067
Synonyms
C430023I11Rik, HD, Hdh, htt, huntingtin, IT15
Feature Type
protein coding gene
Genetic Map
Chromosome 5
17.92 cM
Detailed Genetic Map ± 1 cM


Mapping data(9)
Sequence Map
Chr5:34761740-34912534 bp, + strand
From VEGA annotation of GRCm38

  150795 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:1593  Vertebrate Homology Class
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
homologs
HTT, huntingtin
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 3064
neXtProt AC: NX_P42858

Human Synonyms: HD, IT15

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

Disease Associations: (1) Diseases Associated with Human HTT

Mutations,
alleles, and
phenotypes
All mutations/alleles(110) : Chemically induced (ENU)(1) Gene trapped(37) Radiation induced(6) Targeted(38) Transgenic(28)
Genomic Mutations involving Htt (7)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
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.
 
Human Diseases Modeled in Mice Using Htt (1)    Mutations Annotated to Human Diseases (41)    Phenotype Images(4)
Interactions
Htt interacts with 429 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (131 annotations)
Process anatomical structure morphogenesis, anterior/posterior pattern specification, ...
Component autophagosome, axon, ...
Function beta-tubulin binding, diazepam binding, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (8 records)
Data Summary: Results (69)    Tissues (16)    Images (8)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 10
Western blot 6
RT-PCR 53
cDNA source data(127)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase htt ; ZFIN htt    NEW 
Molecular
reagents
All nucleic(141) Genomic(7) cDNA(130) Primer pair(3) Other(1)
Microarray probesets(5)
Other database
links
VEGA Gene Model OTTMUSG00000023182 (Evidence)
Ensembl Gene Model ENSMUSG00000029104 (Evidence)
Entrez Gene 15194 (Evidence)
UniGene 209071
DFCI TC1579594, TC1608409, TC1610164, TC1635290, TC1738204
DoTS DT.101407919, DT.101725368, DT.101739516, DT.110640863, DT.110640876, DT.110640884, DT.110640926, DT.490097, DT.91326586, DT.91354907, DT.91395227, DT.94247941
NIA Mouse Gene Index U005492
Consensus CDS Project CCDS19220.1
International Mouse Phenotyping Consortium Status Htt
Sequences
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 sequences
All sequences(58) RefSeq(5) UniProt(2)
Polymorphisms
All PCR and RFLP(5) : PCR(1) RFLP(4) SNPs within 2kb(586 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR011989 Armadillo-like helical
InterPro IPR016024 Armadillo-type fold
InterPro IPR000091 Huntingtin
InterPro IPR024613 Huntingtin, middle-repeat
Protein Ontology PR:000008840 huntingtin
References
(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:221683 Francelle L, et al., The striatal long noncoding RNA Abhd11os is neuroprotective against an N-terminal fragment of mutant huntingtin in vivo. Neurobiol Aging. 2015 Mar;36(3):1601.e7-16
All references(320)
Disease annotation references (40)
Other
accession IDs
MGD-MRK-10687, MGI:2140822, MGI:2441905

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
07/21/2015
MGI 5.22
The Jackson Laboratory