Type |
Details |
Score |
Protein Domain |
Type: |
Repeat |
Description: |
This repeated domain is less than 40 amino acids in length and is present in huntingtin protein (Htt). Htt is expressed in many tissues, with various expression levels and is involved in a number of cellular functions. However, its exact function is not yet clear. An abnormal polyglutamine (polyQ) expansion in this protein causes Huntington's disease (HD), a progressive autosomal-dominant neurodegenerative disease characterised by an uncontrolled motor movement known as chorea, cognitive disorder and depression []. Htt consists of multiple HEAT repeats organised in N-terminal, bridge and C-terminal domains [, ], which function as a scaffold that mediates interactions with binding partners. This domain connects the N- and C-HEAT domains. |
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•
•
•
•
•
|
Publication |
First Author: |
Cheng PH |
Year: |
2013 |
Journal: |
Am J Hum Genet |
Title: |
miR-196a ameliorates phenotypes of Huntington disease in cell, transgenic mouse, and induced pluripotent stem cell models. |
Volume: |
93 |
Issue: |
2 |
Pages: |
306-12 |
|
•
•
•
•
•
|
Publication |
First Author: |
Cheng PH |
Year: |
2013 |
Journal: |
Brain Struct Funct |
Title: |
Significantly differential diffusion of neuropathological aggregates in the brain of transgenic mice carrying N-terminal mutant huntingtin fused with green fluorescent protein. |
Volume: |
218 |
Issue: |
1 |
Pages: |
283-94 |
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•
•
•
•
•
|
Allele |
Name: |
deletion, Chr 5, John C. Schimenti 4; deletion, Chr 5, John C Schimenti 4 |
Allele Type: |
Radiation induced |
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|
•
•
•
•
•
|
Allele |
Name: |
deletion, Chr 5, John C Schimenti; deletion, Chr 5, John C Schimenti 1 |
Allele Type: |
Radiation induced |
|
|
•
•
•
•
•
|
Allele |
Name: |
deletion, Chr 5, John C. Schimenti 5; deletion, Chr 5, John C Schimenti 5 |
Allele Type: |
Radiation induced |
|
|
•
•
•
•
•
|
Strain |
Attribute String: |
mutant stock, transgenic |
|
•
•
•
•
•
|
Strain |
Attribute String: |
mutant stock, transgenic |
|
•
•
•
•
•
|
Allele |
Name: |
deletion, Chr 5, John C. Schimenti 2; deletion, Chr 5, John C Schimenti 2 |
Allele Type: |
Chemically induced (ENU) |
|
|
•
•
•
•
•
|
Allele |
Name: |
huntingtin; targeted mutation 1.1, Marie-Francoise Chesselet |
Allele Type: |
Targeted |
Attribute String: |
Humanized sequence |
|
•
•
•
•
•
|
Allele |
Name: |
huntingtin; targeted mutation 1, TaconicArtemis |
Allele Type: |
Targeted |
Attribute String: |
Inserted expressed sequence, Null/knockout |
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•
•
•
•
•
|
Allele |
Name: |
huntingtin; targeted mutation 6, Marcy E MacDonald |
Allele Type: |
Targeted |
Attribute String: |
Humanized sequence |
|
•
•
•
•
•
|
Allele |
Name: |
huntingtin; endonuclease-mediated mutation 2, David Howland |
Allele Type: |
Endonuclease-mediated |
Attribute String: |
Humanized sequence |
|
•
•
•
•
•
|
Allele |
Name: |
huntingtin; endonuclease-mediated mutation 1, David Howland |
Allele Type: |
Endonuclease-mediated |
Attribute String: |
Humanized sequence |
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•
•
•
•
•
|
Allele |
Name: |
huntingtin; endonuclease-mediated mutation 3, David Howland |
Allele Type: |
Endonuclease-mediated |
Attribute String: |
Humanized sequence |
|
•
•
•
•
•
|
Allele |
Name: |
deletion, Chr 5, John C. Schimenti 3; deletion, Chr 5, John C Schimenti 3 |
Allele Type: |
Radiation induced |
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•
•
•
•
•
|
Allele |
Name: |
transgene insertion 1, Michelle E Erlich |
Allele Type: |
Transgenic |
Attribute String: |
Humanized sequence, Inserted expressed sequence |
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•
•
•
•
•
|
Allele |
Name: |
transgene insertion 4a, Xiao-Jiang Li |
Allele Type: |
Transgenic |
Attribute String: |
Humanized sequence, Inserted expressed sequence |
|
•
•
•
•
•
|
Allele |
Name: |
transgene insertion 190, Nobuyuki Nukina |
Allele Type: |
Transgenic |
Attribute String: |
Humanized sequence, Inserted expressed sequence, Reporter |
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•
•
•
•
•
|
Genotype |
Symbol: |
Tg(YAC18)18Hay/? |
Background: |
involves: FVB/N |
Zygosity: |
ot |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Tg(HTT*/EGFP)150Nn/? |
Background: |
involves: C57BL/6 * DBA/2 |
Zygosity: |
ot |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Tg(YAC18)18Hay/? |
Background: |
involves: FVB/N |
Zygosity: |
ot |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Tg(Prnp-SNAP25/HTT*150Q)8Xjl/? |
Background: |
involves: FVB |
Zygosity: |
ot |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
HT Experiment |
Series Id: |
GSE3248 |
Experiment Type: |
transcription profiling by array |
Study Type: |
Baseline |
Source: |
ArrayExpress |
|
•
•
•
•
•
|
HT Experiment |
|
Experiment Type: |
RNA-Seq |
Study Type: |
WT vs. Mutant |
Source: |
GEO |
|
•
•
•
•
•
|
Publication |
First Author: |
Wu TT |
Year: |
2020 |
Journal: |
Stem Cells |
Title: |
Mesenchymal stem cells alleviate AQP-4-dependent glymphatic dysfunction and improve brain distribution of antisense oligonucleotides in BACHD mice. |
Volume: |
38 |
Issue: |
2 |
Pages: |
218-230 |
|
•
•
•
•
•
|
Publication |
First Author: |
Doria JG |
Year: |
2015 |
Journal: |
Neurobiol Dis |
Title: |
The mGluR5 positive allosteric modulator, CDPPB, ameliorates pathology and phenotypic signs of a mouse model of Huntington's disease. |
Volume: |
73 |
|
Pages: |
163-73 |
|
•
•
•
•
•
|
Publication |
First Author: |
Oliveira AO |
Year: |
2016 |
Journal: |
Hum Mol Genet |
Title: |
αB-Crystallin overexpression in astrocytes modulates the phenotype of the BACHD mouse model of Huntington's disease. |
Volume: |
25 |
Issue: |
9 |
Pages: |
1677-89 |
|
•
•
•
•
•
|
HT Experiment |
Series Id: |
GSE50379 |
Experiment Type: |
transcription profiling by array |
Study Type: |
WT vs. Mutant |
Source: |
ArrayExpress |
|
•
•
•
•
•
|
Publication |
First Author: |
Baldo B |
Year: |
2014 |
Journal: |
PLoS One |
Title: |
Effects of deletion of mutant huntingtin in steroidogenic factor 1 neurons on the psychiatric and metabolic phenotype in the BACHD mouse model of Huntington disease. |
Volume: |
9 |
Issue: |
10 |
Pages: |
e107691 |
|
•
•
•
•
•
|
Publication |
First Author: |
Shirendeb UP |
Year: |
2012 |
Journal: |
Hum Mol Genet |
Title: |
Mutant huntingtin's interaction with mitochondrial protein Drp1 impairs mitochondrial biogenesis and causes defective axonal transport and synaptic degeneration in Huntington's disease. |
Volume: |
21 |
Issue: |
2 |
Pages: |
406-20 |
|
•
•
•
•
•
|
Allele |
Name: |
transgene insertion B, X William Yang |
Allele Type: |
Transgenic |
Attribute String: |
Inserted expressed sequence |
|
•
•
•
•
•
|
Allele |
Name: |
transgene insertion 1, X William Yang |
Allele Type: |
Transgenic |
Attribute String: |
Humanized sequence, Inserted expressed sequence |
|
•
•
•
•
•
|
Strain |
Attribute String: |
congenic, mutant strain, targeted mutation |
|
•
•
•
•
•
|
Strain |
Attribute String: |
targeted mutation, mutant strain, congenic |
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•
•
•
•
•
|
Strain |
Attribute String: |
congenic, endonuclease-mediated mutation, mutant strain |
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•
•
•
•
•
|
Strain |
Attribute String: |
transgenic, coisogenic |
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•
•
•
•
•
|
Publication |
First Author: |
Brown TB |
Year: |
2008 |
Journal: |
Hum Mol Genet |
Title: |
Neocortical expression of mutant huntingtin is not required for alterations in striatal gene expression or motor dysfunction in a transgenic mouse. |
Volume: |
17 |
Issue: |
20 |
Pages: |
3095-104 |
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•
•
•
•
•
|
Allele |
Name: |
transgene insertion L, X William Yang |
Allele Type: |
Transgenic |
Attribute String: |
Conditional ready, Humanized sequence, Inserted expressed sequence |
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•
•
•
•
•
|
Allele |
Name: |
transgene insertion 22, Shang-Hsun Yang |
Allele Type: |
Transgenic |
Attribute String: |
Humanized sequence, Inserted expressed sequence, Reporter |
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•
•
•
•
•
|
Strain |
Attribute String: |
mutant stock, transgenic |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Ift172/Ift172<+> Del(5D5Mit73-D5Mit351)5Jcs/? |
Background: |
involves: 129S4/SvJae * C3HeB/FeJ * C57BL/6J |
Zygosity: |
cx |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Del(5D5Mit73-D5Mit351)5Jcs/+ |
Background: |
mixed |
Zygosity: |
ht |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Htt/Htt |
Background: |
involves: 129S1/Sv * 129X1/SvJ * Swiss Webster |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Del(5D5Mit73-D5Mit351)5Jcs/+ |
Background: |
involves: 129S4/SvJae * C57BL/6J |
Zygosity: |
ht |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Del(5D5Mit388-D5Mit351)4Jcs/+ |
Background: |
involves: 129S4/SvJae * C57BL/6J |
Zygosity: |
ht |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Del(5Letm1-Htt)1Jcs/+ |
Background: |
involves: 129S4/SvJae * C57BL/6J |
Zygosity: |
ht |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Del(5D5Mit148-Qdpr)2Jcs/+ |
Background: |
involves: 129S4/SvJae * C57BL/6J |
Zygosity: |
ht |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Del(5Letm1-D5Mit81)3Jcs/+ |
Background: |
involves: 129S4/SvJae * C57BL/6J |
Zygosity: |
ht |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Del(5Letm1-D5Mit81)3Jcs/+ |
Background: |
involves: 129S4/SvJae * C3H * C57BL/6J |
Zygosity: |
ht |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Del(5D5Mit73-D5Mit351)5Jcs/+ |
Background: |
involves: 129S4/SvJae * C3H * C57BL/6J |
Zygosity: |
ht |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Del(5D5Mit148-Qdpr)2Jcs/+ |
Background: |
involves: 129S4/SvJae * C3H * C57BL/6J |
Zygosity: |
ht |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Tg(Ppp1r1b-HTT*)1Meeh/? |
Background: |
C57BL/6J-Tg(Ppp1r1b-HTT*)1Meeh |
Zygosity: |
ot |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Tg(HTT*/EGFP)190Nn/? |
Background: |
involves: C57BL/6 * DBA/2 |
Zygosity: |
ot |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Tg(Plp1-HTT*150Q)4aXjl/? |
Background: |
Not Specified |
Zygosity: |
ot |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Htt/Htt<+> |
Background: |
Not Specified |
Zygosity: |
ht |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Htt/Htt<+> |
Background: |
B6.129S1-Htt/190ChdiJ |
Zygosity: |
ht |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Kudwa AE |
Year: |
2013 |
Journal: |
PLoS Curr |
Title: |
Increased Body Weight of the BAC HD Transgenic Mouse Model of Huntington's Disease Accounts for Some but Not All of the Observed HD-like Motor Deficits. |
Volume: |
5 |
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Gafni J |
Year: |
2012 |
Journal: |
J Neurosci |
Title: |
Caspase-6 activity in a BACHD mouse modulates steady-state levels of mutant huntingtin protein but is not necessary for production of a 586 amino acid proteolytic fragment. |
Volume: |
32 |
Issue: |
22 |
Pages: |
7454-65 |
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•
•
•
•
•
|
Publication |
First Author: |
Thomas EA |
Year: |
2011 |
Journal: |
Hum Mol Genet |
Title: |
In vivo cell-autonomous transcriptional abnormalities revealed in mice expressing mutant huntingtin in striatal but not cortical neurons. |
Volume: |
20 |
Issue: |
6 |
Pages: |
1049-60 |
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•
•
•
•
•
|
Publication |
First Author: |
Simmons DA |
Year: |
2016 |
Journal: |
Hum Mol Genet |
Title: |
A small molecule p75NTR ligand normalizes signalling and reduces Huntington's disease phenotypes in R6/2 and BACHD mice. |
Volume: |
25 |
Issue: |
22 |
Pages: |
4920-4938 |
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•
•
•
•
•
|
Publication |
First Author: |
Waldron-Roby E |
Year: |
2012 |
Journal: |
J Neurosci |
Title: |
Transgenic mouse model expressing the caspase 6 fragment of mutant huntingtin. |
Volume: |
32 |
Issue: |
1 |
Pages: |
183-93 |
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•
•
•
•
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Publication |
First Author: |
Gray M |
Year: |
2008 |
Journal: |
J Neurosci |
Title: |
Full-length human mutant huntingtin with a stable polyglutamine repeat can elicit progressive and selective neuropathogenesis in BACHD mice. |
Volume: |
28 |
Issue: |
24 |
Pages: |
6182-95 |
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•
•
•
•
•
|
Publication |
First Author: |
Siebzehnrübl FA |
Year: |
2018 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Early postnatal behavioral, cellular, and molecular changes in models of Huntington disease are reversible by HDAC inhibition. |
Volume: |
115 |
Issue: |
37 |
Pages: |
E8765-E8774 |
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•
•
•
•
•
|
Publication |
First Author: |
Pouladi MA |
Year: |
2010 |
Journal: |
Hum Mol Genet |
Title: |
Full-length huntingtin levels modulate body weight by influencing insulin-like growth factor 1 expression. |
Volume: |
19 |
Issue: |
8 |
Pages: |
1528-38 |
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•
•
•
•
•
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Publication |
First Author: |
Kurosawa M |
Year: |
2015 |
Journal: |
Hum Mol Genet |
Title: |
Depletion of p62 reduces nuclear inclusions and paradoxically ameliorates disease phenotypes in Huntington's model mice. |
Volume: |
24 |
Issue: |
4 |
Pages: |
1092-105 |
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•
•
•
•
•
|
Publication |
First Author: |
Kwan W |
Year: |
2012 |
Journal: |
J Clin Invest |
Title: |
Mutant huntingtin impairs immune cell migration in Huntington disease. |
Volume: |
122 |
Issue: |
12 |
Pages: |
4737-47 |
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•
•
•
•
•
|
Allele |
Name: |
transgene insertion N, X William Yang |
Allele Type: |
Transgenic |
Attribute String: |
Humanized sequence, Inserted expressed sequence |
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•
•
•
•
•
|
Allele |
Name: |
transgene insertion A, X William Yang |
Allele Type: |
Transgenic |
Attribute String: |
Humanized sequence, Inserted expressed sequence |
|
•
•
•
•
•
|
Strain |
Attribute String: |
congenic, mutant strain, targeted mutation |
|
•
•
•
•
•
|
Allele |
Name: |
transgene insertion L, X William Yang |
Allele Type: |
Transgenic |
Attribute String: |
Humanized sequence, Inserted expressed sequence |
|
•
•
•
•
•
|
Publication |
First Author: |
Leavitt BR |
Year: |
2006 |
Journal: |
J Neurochem |
Title: |
Wild-type huntingtin protects neurons from excitotoxicity. |
Volume: |
96 |
Issue: |
4 |
Pages: |
1121-9 |
|
•
•
•
•
•
|
Strain |
Attribute String: |
coisogenic, mutant strain, transgenic |
|
•
•
•
•
•
|
Strain |
Attribute String: |
transgenic, mutant strain, coisogenic |
|
•
•
•
•
•
|
Strain |
Attribute String: |
coisogenic, mutant strain, transgenic |
|
•
•
•
•
•
|
Allele |
Name: |
transgene insertion 52, Christopher A Ross |
Allele Type: |
Transgenic |
Attribute String: |
Humanized sequence, Inserted expressed sequence |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Hm/Hm<+> Del(5D5Mit73-D5Mit351)5Jcs/? |
Background: |
involves: 129S4/SvJae * C57BL/6J |
Zygosity: |
cx |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Htt/Htt |
Background: |
involves: 129S1/Sv * 129X1/SvJ * Swiss Webster |
Zygosity: |
ht |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Tg(HTT*97Q)LXwy/? |
Background: |
FVB-Tg(HTT*97Q)LXwy |
Zygosity: |
ot |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Tg(UBC-GFP/HTT*84Q)22Shya/? |
Background: |
involves: FVB |
Zygosity: |
ot |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
3119
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
3120
|
Fragment?: |
false |
|
•
•
•
•
•
|
Publication |
First Author: |
Dickey AS |
Year: |
2016 |
Journal: |
Nat Med |
Title: |
PPAR-δ is repressed in Huntington's disease, is required for normal neuronal function and can be targeted therapeutically. |
Volume: |
22 |
Issue: |
1 |
Pages: |
37-45 |
|
•
•
•
•
•
|
Publication |
First Author: |
Clark RM |
Year: |
2001 |
Journal: |
Genetics |
Title: |
Reciprocal mouse and human limb phenotypes caused by gain- and loss-of-function mutations affecting Lmbr1. |
Volume: |
159 |
Issue: |
2 |
Pages: |
715-26 |
|
•
•
•
•
•
|
Strain |
Attribute String: |
transgenic, mutant strain, coisogenic |
|
•
•
•
•
•
|
Strain |
Attribute String: |
coisogenic, mutant strain, transgenic |
|
•
•
•
•
•
|
Strain |
Attribute String: |
transgenic, mutant strain, coisogenic |
|
•
•
•
•
•
|
Strain |
Attribute String: |
coisogenic, mutant strain, transgenic |
|
•
•
•
•
•
|
Strain |
Attribute String: |
transgenic, mutant strain, coisogenic |
|
•
•
•
•
•
|
Strain |
Attribute String: |
congenic, endonuclease-mediated mutation, mutant strain |
|
•
•
•
•
•
|
Publication |
First Author: |
Valenza M |
Year: |
2007 |
Journal: |
Hum Mol Genet |
Title: |
Cholesterol biosynthesis pathway is disturbed in YAC128 mice and is modulated by huntingtin mutation. |
Volume: |
16 |
Issue: |
18 |
Pages: |
2187-98 |
|
•
•
•
•
•
|
Publication |
First Author: |
Tang TS |
Year: |
2005 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Disturbed Ca2+ signaling and apoptosis of medium spiny neurons in Huntington's disease. |
Volume: |
102 |
Issue: |
7 |
Pages: |
2602-7 |
|
•
•
•
•
•
|
Allele |
Name: |
transgene insertion I, X William Yang |
Allele Type: |
Transgenic |
Attribute String: |
Conditional ready, Humanized sequence, Inserted expressed sequence |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Lmbr1/Lmbr1<+> Del(5D5Mit73-D5Mit351)5Jcs/? |
Background: |
mixed |
Zygosity: |
cx |
Has Mutant Allele: |
true |
|
•
•
•
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Genotype |
Symbol: |
Htt/Htt |
Background: |
involves: 129S1/Sv * 129X1/SvJ * Swiss Webster |
Zygosity: |
ht |
Has Mutant Allele: |
true |
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Genotype |
Symbol: |
Tg(HTT*)BXwy/? |
Background: |
FVB-Tg(HTT*)BXwy |
Zygosity: |
ot |
Has Mutant Allele: |
true |
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Genotype |
Symbol: |
Tg(HTT*)1Xwy/? |
Background: |
FVB-Tg(HTT*)1Xwy |
Zygosity: |
ot |
Has Mutant Allele: |
true |
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Genotype |
Symbol: |
Htt/Htt Tg(YAC18)18Hay/? |
Background: |
involves: FVB/N |
Zygosity: |
cx |
Has Mutant Allele: |
true |
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Genotype |
Symbol: |
Tg(HTT*)NXwy/? |
Background: |
involves: FVB/NJ |
Zygosity: |
ot |
Has Mutant Allele: |
true |
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Genotype |
Symbol: |
Tg(HTT*)LXwy/? |
Background: |
involves: FVB/NJ |
Zygosity: |
ot |
Has Mutant Allele: |
true |
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