| Type |
Details |
Score |
| 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 |
|
•
•
•
•
•
|
| Allele |
| Name: |
transgene insertion N, X William Yang |
| Allele Type: |
Transgenic |
| Attribute String: |
Humanized sequence, Inserted expressed sequence |
|
•
•
•
•
•
|
| Allele |
| Name: |
transgene insertion L, X William Yang |
| Allele Type: |
Transgenic |
| Attribute String: |
Humanized sequence, Inserted expressed sequence |
|
•
•
•
•
•
|
| 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 |
|
•
•
•
•
•
|
| 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: |
Caron NS |
| Year: |
2021 |
| Journal: |
J Neurosci |
| Title: |
Mutant Huntingtin Is Cleared from the Brain via Active Mechanisms in Huntington Disease. |
| Volume: |
41 |
| Issue: |
4 |
| Pages: |
780-796 |
|
•
•
•
•
•
|
| 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 |
|
•
•
•
•
•
|
| 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 |
|
•
•
•
•
•
|
| Allele |
| Name: |
transgene insertion I, X William Yang |
| Allele Type: |
Transgenic |
| Attribute String: |
Conditional ready, Humanized sequence, Inserted expressed sequence |
|
•
•
•
•
•
|
| 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 |
|
•
•
•
•
•
|
| 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: |
transgenic, mutant strain, coisogenic |
|
•
•
•
•
•
|
| Strain |
| Attribute String: |
congenic, endonuclease-mediated mutation, mutant strain |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Lmbr1/Lmbr1<+> Del(5D5Mit73-D5Mit351)5Jcs/? |
| Background: |
mixed |
| 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*)BXwy/? |
| Background: |
FVB-Tg(HTT*)BXwy |
| Zygosity: |
ot |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Tg(HTT*)1Xwy/? |
| Background: |
FVB-Tg(HTT*)1Xwy |
| Zygosity: |
ot |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Htt/Htt Tg(YAC18)18Hay/? |
| Background: |
involves: FVB/N |
| Zygosity: |
cx |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Tg(HTT*)NXwy/? |
| Background: |
involves: FVB/NJ |
| Zygosity: |
ot |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Tg(HTT*)LXwy/? |
| Background: |
involves: FVB/NJ |
| Zygosity: |
ot |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Tg(HTT*)AXwy/? |
| Background: |
involves: FVB/NJ |
| Zygosity: |
ot |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Roberts SL |
| Year: |
2020 |
| Journal: |
Hum Mol Genet |
| Title: |
Bim contributes to the progression of Huntington's disease-associated phenotypes. |
| Volume: |
29 |
| Issue: |
2 |
| Pages: |
216-227 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Holmes A |
| Year: |
2003 |
| Journal: |
Biol Psychiatry |
| Title: |
Abnormal behavioral phenotypes of serotonin transporter knockout mice: parallels with human anxiety and depression. |
| Volume: |
54 |
| Issue: |
10 |
| Pages: |
953-9 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Singaraja RR |
| Year: |
2011 |
| Journal: |
Hum Mol Genet |
| Title: |
Altered palmitoylation and neuropathological deficits in mice lacking HIP14. |
| Volume: |
20 |
| Issue: |
20 |
| Pages: |
3899-909 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Zhu J |
| Year: |
2020 |
| Journal: |
Mol Cell |
| Title: |
GIT/PIX Condensates Are Modular and Ideal for Distinct Compartmentalized Cell Signaling. |
| Volume: |
79 |
| Issue: |
5 |
| Pages: |
782-796.e6 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Bagrodia S |
| Year: |
1999 |
| Journal: |
Trends Cell Biol |
| Title: |
Pak to the future. |
| Volume: |
9 |
| Issue: |
9 |
| Pages: |
350-5 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Flanders JA |
| Year: |
2003 |
| Journal: |
FEBS Lett |
| Title: |
The Cbl proteins are binding partners for the Cool/Pix family of p21-activated kinase-binding proteins. |
| Volume: |
550 |
| Issue: |
1-3 |
| Pages: |
119-23 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Feng Q |
| Year: |
2002 |
| Journal: |
J Biol Chem |
| Title: |
Regulation of the Cool/Pix proteins: key binding partners of the Cdc42/Rac targets, the p21-activated kinases. |
| Volume: |
277 |
| Issue: |
7 |
| Pages: |
5644-50 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Eriguchi M |
| Year: |
2010 |
| Journal: |
J Neurol Sci |
| Title: |
alpha Pix enhances mutant huntingtin aggregation. |
| Volume: |
290 |
| Issue: |
1-2 |
| Pages: |
80-5 |
|
•
•
•
•
•
|
| Protein Domain |
| Type: |
Domain |
| Description: |
There are two forms of Pix proteins: alpha Pix (also called Rho guanine nucleotide exchange factor (GEF) 6, 90Cool-2 or ARHGEF6) and beta Pix (GEF7, p85Cool-1 or ARHGEF7), which activate small GTPases by exchanging bound GDP for free GTP. betaPix contains an N-terminal SH3 domain, a RhoGEF/DH domain, a PH domain, a GIT1 binding domain (GBD), and a C-terminal coiled-coil (CC) domain []. It acts as a GEF for both Cdc42 and Rac1 [], and plays important roles in regulating neuroendocrine exocytosis, focal adhesion maturation, cell migration, synaptic vesicle localization, and insulin secretion [, , , ]. alphaPix differs in that it contains a calponin homology (CH) domain, which interacts with beta-parvin, N-terminal to the SH3 domain. alphaPix is an exchange factor for Rac1 and Cdc42 and mediates Pak activation on cell adhesion to fibronectin. Mutations in alphaPix can cause X-linked mental retardation. alphaPix also interacts with Huntington's disease protein (htt), and enhances the aggregation of mutant htt (muthtt) by facilitating SDS-soluble muthtt-muthtt interactions. The DH-PH domain of a Pix was required for its binding to htt. In the majority of Rho GEF proteins, the DH-PH domain is responsible for the exchange activity [, , , , ].This entry represents the PH domain of ARHGEF6 and ARHGEF7. |
|
•
•
•
•
•
|
| HT Experiment |
|
| Experiment Type: |
transcription profiling by array |
| Study Type: |
Baseline |
| Source: |
GEO |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Shehadeh J |
| Year: |
2006 |
| Journal: |
Neurobiol Dis |
| Title: |
Striatal neuronal apoptosis is preferentially enhanced by NMDA receptor activation in YAC transgenic mouse model of Huntington disease. |
| Volume: |
21 |
| Issue: |
2 |
| Pages: |
392-403 |
|
•
•
•
•
•
|
| Strain |
| Attribute String: |
coisogenic, transgenic |
|
•
•
•
•
•
|
| Strain |
| Attribute String: |
transgenic, coisogenic |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Doria JG |
| Year: |
2018 |
| Journal: |
J Neurochem |
| Title: |
The mGluR5 positive allosteric modulator VU0409551 improves synaptic plasticity and memory of a mouse model of Huntington's disease. |
| Volume: |
147 |
| Issue: |
2 |
| Pages: |
222-239 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Abada YS |
| Year: |
2013 |
| Journal: |
Behav Brain Res |
| Title: |
Motor, emotional and cognitive deficits in adult BACHD mice: a model for Huntington's disease. |
| Volume: |
238 |
|
| Pages: |
243-51 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Aharony I |
| Year: |
2015 |
| Journal: |
Hum Mol Genet |
| Title: |
A Huntingtin-based peptide inhibitor of caspase-6 provides protection from mutant Huntingtin-induced motor and behavioral deficits. |
| Volume: |
24 |
| Issue: |
9 |
| Pages: |
2604-14 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Cheng S |
| Year: |
2018 |
| Journal: |
Exp Neurol |
| Title: |
Therapeutic efficacy of regulable GDNF expression for Huntington's and Parkinson's disease by a high-induction, background-free "GeneSwitch" vector. |
| Volume: |
309 |
|
| Pages: |
79-90 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Dickey AS |
| Year: |
2017 |
| Journal: |
Sci Transl Med |
| Title: |
PPARδ activation by bexarotene promotes neuroprotection by restoring bioenergetic and quality control homeostasis. |
| Volume: |
9 |
| Issue: |
419 |
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Olmo IG |
| Year: |
2021 |
| Journal: |
ASN Neuro |
| Title: |
High-Throughput Sequencing of BACHD Mice Reveals Upregulation of Neuroprotective miRNAs at the Pre-Symptomatic Stage of Huntington's Disease. |
| Volume: |
13 |
|
| Pages: |
17590914211009857 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Kuljis DA |
| Year: |
2016 |
| Journal: |
PLoS One |
| Title: |
Sex Differences in Circadian Dysfunction in the BACHD Mouse Model of Huntington's Disease. |
| Volume: |
11 |
| Issue: |
2 |
| Pages: |
e0147583 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mantovani S |
| Year: |
2016 |
| Journal: |
Hum Mol Genet |
| Title: |
Motor deficits associated with Huntington's disease occur in the absence of striatal degeneration in BACHD transgenic mice. |
| Volume: |
25 |
| Issue: |
9 |
| Pages: |
1780-91 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Diaz Escarcega R |
| Year: |
2024 |
| Journal: |
Mol Cell Neurosci |
| Title: |
Sphingosine kinase 2 regulates protein ubiquitination networks in neurons. |
| Volume: |
130 |
|
| Pages: |
103948 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Conroy F |
| Year: |
2022 |
| Journal: |
Nat Commun |
| Title: |
Chemical engineering of therapeutic siRNAs for allele-specific gene silencing in Huntington's disease models. |
| Volume: |
13 |
| Issue: |
1 |
| Pages: |
5802 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Le Cann K |
| Year: |
2021 |
| Journal: |
Sci Rep |
| Title: |
The difficulty to model Huntington's disease in vitro using striatal medium spiny neurons differentiated from human induced pluripotent stem cells. |
| Volume: |
11 |
| Issue: |
1 |
| Pages: |
6934 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Lee W |
| Year: |
2013 |
| Journal: |
Neurobiol Dis |
| Title: |
Enhanced Ca(2+)-dependent glutamate release from astrocytes of the BACHD Huntington's disease mouse model. |
| Volume: |
58 |
|
| Pages: |
192-9 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Rocher AB |
| Year: |
2016 |
| Journal: |
Neurobiol Dis |
| Title: |
Synaptic scaling up in medium spiny neurons of aged BACHD mice: A slow-progression model of Huntington's disease. |
| Volume: |
86 |
|
| Pages: |
131-9 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Hult Lundh S |
| Year: |
2013 |
| Journal: |
Hum Mol Genet |
| Title: |
Hypothalamic expression of mutant huntingtin contributes to the development of depressive-like behavior in the BAC transgenic mouse model of Huntington's disease. |
| Volume: |
22 |
| Issue: |
17 |
| Pages: |
3485-97 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mattis VB |
| Year: |
2015 |
| Journal: |
Hum Mol Genet |
| Title: |
HD iPSC-derived neural progenitors accumulate in culture and are susceptible to BDNF withdrawal due to glutamate toxicity. |
| Volume: |
24 |
| Issue: |
11 |
| Pages: |
3257-71 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Schroeder AM |
| Year: |
2016 |
| Journal: |
PLoS One |
| Title: |
Cardiac Dysfunction in the BACHD Mouse Model of Huntington's Disease. |
| Volume: |
11 |
| Issue: |
1 |
| Pages: |
e0147269 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Radulescu CI |
| Year: |
2019 |
| Journal: |
Neurobiol Dis |
| Title: |
Manipulation of microbiota reveals altered callosal myelination and white matter plasticity in a model of Huntington disease. |
| Volume: |
127 |
|
| Pages: |
65-75 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Gosset P |
| Year: |
2020 |
| Journal: |
Neurobiol Dis |
| Title: |
Evidence for the spread of human-derived mutant huntingtin protein in mice and non-human primates. |
| Volume: |
141 |
|
| Pages: |
104941 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Duarte F |
| Year: |
2023 |
| Journal: |
Mol Ther Methods Clin Dev |
| Title: |
Semi-automated workflows to quantify AAV transduction in various brain areas and predict gene editing outcome for neurological disorders. |
| Volume: |
29 |
|
| Pages: |
254-270 |
|
•
•
•
•
•
|
| Strain |
| Attribute String: |
congenic, endonuclease-mediated mutation, mutant strain, targeted mutation |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Tg(HTT*97Q)IXwy/? |
| Background: |
FVB-Tg(HTT*97Q)IXwy |
| Zygosity: |
ot |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Htt/Htt Tg(HTT*)1Xwy/? |
| Background: |
involves: 129S/SvEv * FVB |
| Zygosity: |
cx |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Htt/Htt Tg(HTT*)BXwy/? |
| Background: |
involves: 129S/SvEv * FVB |
| Zygosity: |
cx |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Tg(Prnp-HTT*82Q)52Caro/? |
| Background: |
involves: C3H * C57BL/6 |
| Zygosity: |
ot |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Htt/Htt Tg(CAG-cre/Esr1*)5Amc/? |
| Background: |
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA * Swiss Webster |
| Zygosity: |
cn |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Htt/Htt<+> Tyrobp/Tyrobp |
| Background: |
involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6 |
| Zygosity: |
cx |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Baird D |
| Year: |
2006 |
| Journal: |
Methods Enzymol |
| Title: |
Biochemical characterization of the Cool (Cloned-out-of-Library)/Pix (Pak-interactive exchange factor) proteins. |
| Volume: |
406 |
|
| Pages: |
58-69 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Kim SH |
| Year: |
2016 |
| Journal: |
Hum Mol Genet |
| Title: |
Allele-specific regulation of mutant Huntingtin by Wig1, a downstream target of p53. |
| Volume: |
25 |
| Issue: |
12 |
| Pages: |
2514-2524 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Soylu-Kucharz R |
| Year: |
2022 |
| Journal: |
iScience |
| Title: |
IKKβ signaling mediates metabolic changes in the hypothalamus of a Huntington disease mouse model. |
| Volume: |
25 |
| Issue: |
2 |
| Pages: |
103771 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Ichikawa M |
| Year: |
2008 |
| Journal: |
Biochem Biophys Res Commun |
| Title: |
Expression analysis for inverted effects of serotonin transporter inactivation. |
| Volume: |
368 |
| Issue: |
1 |
| Pages: |
43-9 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Powell JE |
| Year: |
2022 |
| Journal: |
Sci Adv |
| Title: |
Targeted gene silencing in the nervous system with CRISPR-Cas13. |
| Volume: |
8 |
| Issue: |
3 |
| Pages: |
eabk2485 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Fernández-Nogales M |
| Year: |
2014 |
| Journal: |
Nat Med |
| Title: |
Huntington's disease is a four-repeat tauopathy with tau nuclear rods. |
| Volume: |
20 |
| Issue: |
8 |
| Pages: |
881-5 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Liu SY |
| Year: |
2018 |
| Journal: |
Brain Res |
| Title: |
Intravenous immunoglobulin ameliorates motor and cognitive deficits and neuropathology in R6/2 mouse model of Huntington's disease by decreasing mutant huntingtin protein level and normalizing NF-κB signaling pathway. |
| Volume: |
1697 |
|
| Pages: |
21-33 |
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Mol Cell Biol |
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Regulation of feedback between protein kinase A and the proteasome system worsens Huntington's disease. |
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33 |
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Proc Natl Acad Sci U S A |
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Nat Genet |
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A slipped-CAG DNA-binding small molecule induces trinucleotide-repeat contractions in vivo. |
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