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 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Htt

Human homologs

Human Homolog		HTT, huntingtin
NCBI Gene ID		3064
neXtProt AC		NX_P42858
Human Synonyms		HD, IT15
Human Chr (Location)		4p16.3; chr4:3076408-3245687 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human HTT

Alleles and phenotypes

All alleles(73) : Targeted(36) Gene trapped(37)
 

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 Using Mouse Htt (1)    Alleles Annotated to Human Diseases(12)   

Gene Ontology (GO) classifications

All GO classifications: (112 annotations)

Process	anatomical structure morphogenesis, anterior/posterior pattern specification, ...
Component	autophagic vacuole, 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 (73)    Tissues (14)    Images (8)
Theiler Stages: 10, 12, 13, 28

Assay Type	Results
RNA in situ	10
Western blot	6
RT-PCR	57

cDNA source data(128)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(142) Genomic(7) cDNA(131) 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.490097, DT.91326586, DT.91354907, DT.91395227, DT.94247941
NIA Mouse Gene Index	U005492
Consensus CDS Project	CCDS19220.1
International Mouse Knockout Project Status	Htt

Sequences

Length	Strain/Species
genomic	OTTMUSG00000023182	VEGA Gene Model | MGI Sequence Detail	150795	C57BL/6J
transcript	OTTMUST00000056080	VEGA | MGI Sequence Detail	13215	Not Applicable
polypeptide	OTTMUSP00000026909	VEGA | MGI Sequence Detail	3120	Not Applicable

All sequences(53) RefSeq(2) UniProt(2)

Polymorphisms

All PCR and RFLP(5) : PCR(1) RFLP(4) SNPs(350 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:194975 Hsiao HY, et al., A critical role of astrocyte-mediated nuclear factor-kappaB-dependent inflammation in Huntington's disease. Hum Mol Genet. 2013 May 1;22(9):1826-42
All references(276)

Other accession IDs

MGD-MRK-10687, MGI:2140822, MGI:2441905