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MGI:Htt

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Contents

Species (Taxon ID) Mus musculus (house mouse) (taxon:10090)
Gene Name(s) Htt ( synonyms: HD, Hdh, htt, huntingtin, IT15 )
Protein Name(s) huntingtin,
External Links
MGI MGI:96067

Annotations

Qualifier GO ID GO term name Reference Evidence Code with/from Aspect Notes Status
GO:0000050

urea cycle

MGI:MGI:3712404
PMID:17213233[1]

IMP: Inferred from Mutant Phenotype

MGI:MGI:2177757

P

From MGI

GO:0000052

citrulline metabolic process

MGI:MGI:3712404
PMID:17213233[1]

IMP: Inferred from Mutant Phenotype

MGI:MGI:2177757

P

From MGI

GO:0000132

establishment of mitotic spindle orientation

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:P42858

P

From MGI

GO:0002039

p53 binding

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:P42858

F

From MGI

GO:0005515

protein binding

MGI:MGI:1206607
PMID:9599014[2]

IPI: Inferred from Physical Interaction

UniProtKB:O35668

F

From MGI

GO:0005515

protein binding

MGI:MGI:3046393
PMID:15242649[3]

IPI: Inferred from Physical Interaction

UniProtKB:O35668
UniProtKB:O08788

F

From MGI

GO:0005515

protein binding

MGI:MGI:3710465
PMID:17500595[4]

IPI: Inferred from Physical Interaction

UniProtKB:Q9D4H8
UniProtKB:O35526
UniProtKB:O08532
UniProtKB:P60879
UniProtKB:P70398
UniProtKB:P46471
UniProtKB:P16858
UniProtKB:P52480

F

From MGI

GO:0005515

protein binding

MGI:MGI:3836371
PMID:19240112[5]

IPI: Inferred from Physical Interaction

UniProtKB:Q8CIN4

F

From MGI

GO:0005622

intracellular

MGI:MGI:3055268
PMID:15340079[6]

IMP: Inferred from Mutant Phenotype

C

From MGI

GO:0005622

intracellular

MGI:MGI:3619161
PMID:11092755[7]

IMP: Inferred from Mutant Phenotype

MGI:MGI:1857180

C

From MGI

GO:0005623

cell

MGI:MGI:1333401
PMID:10078572[8]

IMP: Inferred from Mutant Phenotype

C

From MGI

GO:0005623

cell

MGI:MGI:2387270
PMID:12223581[9]

IMP: Inferred from Mutant Phenotype

MGI:MGI:2388032

C

From MGI

GO:0005624

membrane fraction

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:P42858

C

From MGI

GO:0005625

soluble fraction

MGI:MGI:4417868

ISO: Inferred from Sequence Orthology

UniProtKB:P51111

C

From MGI

GO:0005625

soluble fraction

MGI:MGI:80477
PMID:8845840[10]

IDA: Inferred from Direct Assay

C

From MGI

GO:0005634

nucleus

MGI:MGI:4459044

PANTHER:PTHR10170

C

From MGI

GO:0005634

nucleus

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:P42858

C

From MGI

GO:0005737

cytoplasm

MGI:MGI:1354105
PMID:10699173[11]

IDA: Inferred from Direct Assay

C

From MGI

GO:0005737

cytoplasm

MGI:MGI:3619488
PMID:16403806[12]

IDA: Inferred from Direct Assay

C

From MGI

GO:0005737

cytoplasm

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:P42858

C

From MGI

GO:0005737

cytoplasm

MGI:MGI:72655
PMID:7647777[13]

IDA: Inferred from Direct Assay

C

From MGI

GO:0005737

cytoplasm

MGI:MGI:77131
PMID:7662892[14]

IDA: Inferred from Direct Assay

C

From MGI

GO:0005737

cytoplasm

MGI:MGI:82391
PMID:8757264[15]

IDA: Inferred from Direct Assay

C

From MGI

GO:0005739

mitochondrion

MGI:MGI:3582129
PMID:15935052[16]

IMP: Inferred from Mutant Phenotype

MGI:MGI:1861934

C

From MGI

GO:0005770

late endosome

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:P42858

C

From MGI

GO:0005776

autophagic vacuole

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:P42858

C

From MGI

GO:0005783

endoplasmic reticulum

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:P42858

C

From MGI

GO:0005794

Golgi apparatus

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:P42858

C

From MGI

GO:0005829

cytosol

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:P42858

C

From MGI

GO:0006606

protein import into nucleus

MGI:MGI:3619161
PMID:11092755[7]

IMP: Inferred from Mutant Phenotype

MGI:MGI:1857180

P

From MGI

GO:0006839

mitochondrial transport

MGI:MGI:3055268
PMID:15340079[6]

IMP: Inferred from Mutant Phenotype

P

From MGI

GO:0006888

ER to Golgi vesicle-mediated transport

MGI:MGI:3619161
PMID:11092755[7]

IMP: Inferred from Mutant Phenotype

MGI:MGI:1857180

P

From MGI

GO:0006890

retrograde vesicle-mediated transport, Golgi to ER

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:P42858

P

From MGI

GO:0006915

apoptotic process

MGI:MGI:76798
PMID:7550343[17]

IMP: Inferred from Mutant Phenotype

MGI:MGI:1857722

P

From MGI

GO:0006916

anti-apoptosis

MGI:MGI:3046393
PMID:15242649[3]

IDA: Inferred from Direct Assay

P

From MGI

GO:0007005

mitochondrion organization

MGI:MGI:3619161
PMID:11092755[7]

IMP: Inferred from Mutant Phenotype

MGI:MGI:1857180

P

From MGI

GO:0007029

endoplasmic reticulum organization

MGI:MGI:3608142
PMID:16256944[18]

IMP: Inferred from Mutant Phenotype

P

From MGI

GO:0007030

Golgi organization

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:P42858

P

From MGI

GO:0007212

dopamine receptor signaling pathway

MGI:MGI:3719127
PMID:17715336[19]

IMP: Inferred from Mutant Phenotype

MGI:MGI:2177757

P

From MGI

GO:0007283

spermatogenesis

MGI:MGI:1926691
PMID:11062468[20]

IMP: Inferred from Mutant Phenotype

MGI:MGI:2177767
MGI:MGI:2177768

P

From MGI

GO:0007369

gastrulation

MGI:MGI:73644
PMID:7774020[21]

IMP: Inferred from Mutant Phenotype

MGI:MGI:2177743

P

From MGI

GO:0007369

gastrulation

MGI:MGI:74603
PMID:7618107[22]

IMP: Inferred from Mutant Phenotype

MGI:MGI:1857180

P

From MGI

GO:0007369

gastrulation

MGI:MGI:76798
PMID:7550343[17]

IMP: Inferred from Mutant Phenotype

MGI:MGI:1857722

P

From MGI

GO:0007417

central nervous system development

MGI:MGI:1100164
PMID:9398841[23]

IMP: Inferred from Mutant Phenotype

MGI:MGI:3697906

P

From MGI

GO:0007420

brain development

MGI:MGI:3689287
PMID:16978870[24]

IMP: Inferred from Mutant Phenotype

MGI:MGI:2675580

P

From MGI

GO:0007569

cell aging

MGI:MGI:3619488
PMID:16403806[12]

IMP: Inferred from Mutant Phenotype

MGI:MGI:3603606

P

From MGI

GO:0007610

behavior

MGI:MGI:1355044
PMID:10778856[25]

IMP: Inferred from Mutant Phenotype

P

From MGI

GO:0007611

learning or memory

MGI:MGI:3619488
PMID:16403806[12]

IMP: Inferred from Mutant Phenotype

MGI:MGI:3603606

P

From MGI

GO:0007612

learning

MGI:MGI:3663582
PMID:16624677[26]

IMP: Inferred from Mutant Phenotype

MGI:MGI:2177757

P

From MGI

GO:0007626

locomotory behavior

MGI:MGI:1926691
PMID:11062468[20]

IMP: Inferred from Mutant Phenotype

MGI:MGI:2177767
MGI:MGI:2177768

P

From MGI

GO:0007626

locomotory behavior

MGI:MGI:1929816
PMID:11152661[27]

IMP: Inferred from Mutant Phenotype

MGI:MGI:2177757

P

From MGI

GO:0007626

locomotory behavior

MGI:MGI:2150498
PMID:11567051[28]

IMP: Inferred from Mutant Phenotype

MGI:MGI:1857180

P

From MGI

GO:0007626

locomotory behavior

MGI:MGI:2387270
PMID:12223581[9]

IMP: Inferred from Mutant Phenotype

MGI:MGI:2388032

P

From MGI

GO:0007626

locomotory behavior

MGI:MGI:2673767
PMID:12926013[29]

IMP: Inferred from Mutant Phenotype

MGI:MGI:2675580

P

From MGI

GO:0007626

locomotory behavior

MGI:MGI:3619488
PMID:16403806[12]

IMP: Inferred from Mutant Phenotype

MGI:MGI:3603606

P

From MGI

GO:0007626

locomotory behavior

MGI:MGI:3719127
PMID:17715336[19]

IMP: Inferred from Mutant Phenotype

MGI:MGI:2177757

P

From MGI

GO:0007626

locomotory behavior

MGI:MGI:73644
PMID:7774020[21]

IMP: Inferred from Mutant Phenotype

MGI:MGI:2177743

P

From MGI

GO:0008088

axon cargo transport

MGI:MGI:3055268
PMID:15340079[6]

IMP: Inferred from Mutant Phenotype

P

From MGI

GO:0008134

transcription factor binding

MGI:MGI:3806183
PMID:18595722[30]

IPI: Inferred from Physical Interaction

UniProtKB:Q99PV8

F

From MGI

GO:0008306

associative learning

MGI:MGI:3699990
PMID:17284197[31]

IMP: Inferred from Mutant Phenotype

MGI:MGI:1861934

P

From MGI

GO:0008340

determination of adult lifespan

MGI:MGI:1926691
PMID:11062468[20]

IMP: Inferred from Mutant Phenotype

MGI:MGI:2177767
MGI:MGI:2177768

P

From MGI

GO:0008340

determination of adult lifespan

MGI:MGI:1929816
PMID:11152661[27]

IMP: Inferred from Mutant Phenotype

MGI:MGI:2177757

P

From MGI

GO:0008542

visual learning

MGI:MGI:73644
PMID:7774020[21]

IMP: Inferred from Mutant Phenotype

MGI:MGI:2177743

P

From MGI

GO:0009653

anatomical structure morphogenesis

MGI:MGI:3609520
PMID:16109169[32]

IMP: Inferred from Mutant Phenotype

MGI:MGI:1857180

P

From MGI

GO:0009790

embryo development

MGI:MGI:1100164
PMID:9398841[23]

IMP: Inferred from Mutant Phenotype

MGI:MGI:3697906
MGI:MGI:1857180

P

From MGI

GO:0009790

embryo development

MGI:MGI:3689287
PMID:16978870[24]

IMP: Inferred from Mutant Phenotype

MGI:MGI:2675580

P

From MGI

GO:0009952

anterior/posterior pattern specification

MGI:MGI:3609520
PMID:16109169[32]

IMP: Inferred from Mutant Phenotype

MGI:MGI:1857180

P

From MGI

GO:0016023

cytoplasmic membrane-bounded vesicle

MGI:MGI:3046393
PMID:15242649[3]

IDA: Inferred from Direct Assay

C

From MGI

GO:0016197

endosome transport

MGI:MGI:3619161
PMID:11092755[7]

IMP: Inferred from Mutant Phenotype

MGI:MGI:1857180

P

From MGI

GO:0016234

inclusion body

MGI:MGI:3522382
PMID:15615787[33]

IDA: Inferred from Direct Assay

C

From MGI

GO:0019244

lactate biosynthetic process from pyruvate

MGI:MGI:3757902
PMID:17708681[34]

IMP: Inferred from Mutant Phenotype

P

From MGI

GO:0019805

quinolinate biosynthetic process

MGI:MGI:3653320
PMID:16697652[35]

IMP: Inferred from Mutant Phenotype

MGI:MGI:1861934

P

From MGI

GO:0019805

quinolinate biosynthetic process

MGI:MGI:3653320
PMID:16697652[35]

IMP: Inferred from Mutant Phenotype

MGI:MGI:1861935

P

From MGI

GO:0021756

striatum development

MGI:MGI:1926548
PMID:11030759[36]

IMP: Inferred from Mutant Phenotype

MGI:MGI:2177751

P

From MGI

GO:0021756

striatum development

MGI:MGI:1926548
PMID:11030759[36]

IMP: Inferred from Mutant Phenotype

MGI:MGI:2177753

P

From MGI

GO:0021756

striatum development

MGI:MGI:3719127
PMID:17715336[19]

IMP: Inferred from Mutant Phenotype

MGI:MGI:2177757

P

From MGI

GO:0021988

olfactory lobe development

MGI:MGI:2673767
PMID:12926013[29]

IMP: Inferred from Mutant Phenotype

MGI:MGI:2675580

P

From MGI

GO:0021990

neural plate formation

MGI:MGI:73644
PMID:7774020[21]

IMP: Inferred from Mutant Phenotype

MGI:MGI:2177743

P

From MGI

GO:0022008

neurogenesis

MGI:MGI:1926691
PMID:11062468[20]

IMP: Inferred from Mutant Phenotype

MGI:MGI:2177767
MGI:MGI:2177768

P

From MGI

GO:0030072

peptide hormone secretion

MGI:MGI:1333401
PMID:10078572[8]

IMP: Inferred from Mutant Phenotype

P

From MGI

GO:0030072

peptide hormone secretion

MGI:MGI:2387270
PMID:12223581[9]

IMP: Inferred from Mutant Phenotype

MGI:MGI:2388032

P

From MGI

GO:0030073

insulin secretion

MGI:MGI:1333401
PMID:10078572[8]

IMP: Inferred from Mutant Phenotype

P

From MGI

GO:0030424

axon

MGI:MGI:2181838
PMID:12115678[37]

IDA: Inferred from Direct Assay

C

From MGI

GO:0030424

axon

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:P42858

C

From MGI

GO:0030424

axon

MGI:MGI:82391
PMID:8757264[15]

IDA: Inferred from Direct Assay

C

From MGI

GO:0030425

dendrite

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:P42858

C

From MGI

GO:0030659

cytoplasmic vesicle membrane

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:P42858

C

From MGI

GO:0034047

regulation of protein phosphatase type 2A activity

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:P42858

P

From MGI

GO:0034452

dynactin binding

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:P42858

F

From MGI

GO:0035176

social behavior

MGI:MGI:1336581
PMID:10196365[38]

IMP: Inferred from Mutant Phenotype

MGI:MGI:2177751

P

From MGI

GO:0042445

hormone metabolic process

MGI:MGI:1333401
PMID:10078572[8]

IMP: Inferred from Mutant Phenotype

P

From MGI

GO:0042445

hormone metabolic process

MGI:MGI:1355425
PMID:10739639[39]

IMP: Inferred from Mutant Phenotype

MGI:MGI:2388032

P

From MGI

GO:0043234

protein complex

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:P42858

C

From MGI

GO:0043524

negative regulation of neuron apoptotic process

MGI:MGI:1929816
PMID:11152661[27]

IMP: Inferred from Mutant Phenotype

MGI:MGI:2177757

P

From MGI

GO:0045505

dynein intermediate chain binding

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:P42858

F

From MGI

GO:0046902

regulation of mitochondrial membrane permeability

MGI:MGI:3582129
PMID:15935052[16]

IMP: Inferred from Mutant Phenotype

MGI:MGI:1861934

P

From MGI

GO:0047496

vesicle transport along microtubule

MGI:MGI:3046393
PMID:15242649[3]

IDA: Inferred from Direct Assay

P

From MGI

GO:0047496

vesicle transport along microtubule

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:P42858

P

From MGI

GO:0048167

regulation of synaptic plasticity

MGI:MGI:1336480
PMID:10196373[40]

IMP: Inferred from Mutant Phenotype

P

From MGI

GO:0048167

regulation of synaptic plasticity

MGI:MGI:3703330
PMID:17442827[41]

IMP: Inferred from Mutant Phenotype

MGI:MGI:1861934

P

From MGI

GO:0048167

regulation of synaptic plasticity

MGI:MGI:3703330
PMID:17442827[41]

IMP: Inferred from Mutant Phenotype

MGI:MGI:1861935

P

From MGI

GO:0048341

paraxial mesoderm formation

MGI:MGI:3609520
PMID:16109169[32]

IMP: Inferred from Mutant Phenotype

MGI:MGI:1857180

P

From MGI

GO:0048487

beta-tubulin binding

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:P42858

F

From MGI

GO:0048666

neuron development

MGI:MGI:1333301
PMID:10082833[42]

IMP: Inferred from Mutant Phenotype

MGI:MGI:2177743

P

From MGI

GO:0048666

neuron development

MGI:MGI:3689287
PMID:16978870[24]

IMP: Inferred from Mutant Phenotype

MGI:MGI:2675580

P

From MGI

GO:0048666

neuron development

MGI:MGI:73644
PMID:7774020[21]

IMP: Inferred from Mutant Phenotype

MGI:MGI:2177743

P

From MGI

GO:0050809

diazepam binding

MGI:MGI:1333301
PMID:10082833[42]

IMP: Inferred from Mutant Phenotype

MGI:MGI:2177743

F

From MGI

GO:0051402

neuron apoptotic process

MGI:MGI:1333301
PMID:10082833[42]

IMP: Inferred from Mutant Phenotype

MGI:MGI:2177743

P

From MGI

GO:0051402

neuron apoptotic process

MGI:MGI:3699769
PMID:10932179[43]

IMP: Inferred from Mutant Phenotype

MGI:MGI:2177753

P

From MGI

GO:0051592

response to calcium ion

MGI:MGI:3582129
PMID:15935052[16]

IMP: Inferred from Mutant Phenotype

MGI:MGI:1861934

P

From MGI

GO:0051881

regulation of mitochondrial membrane potential

MGI:MGI:3757902
PMID:17708681[34]

IMP: Inferred from Mutant Phenotype

P

From MGI

GO:0051938

L-glutamate import

MGI:MGI:3699769
PMID:10932179[43]

IMP: Inferred from Mutant Phenotype

MGI:MGI:2177753

P

From MGI

GO:0055072

iron ion homeostasis

MGI:MGI:3619161
PMID:11092755[7]

IMP: Inferred from Mutant Phenotype

MGI:MGI:1857180

P

From MGI

GO:2001237

negative regulation of extrinsic apoptotic signaling pathway

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:P42858

P

From MGI

NOT

GO:0048666

neuron development

MGI:MGI:1331318
PMID:10037472[44]

IMP: Inferred from Mutant Phenotype

MGI:MGI:2177743

P

From MGI


Notes

References

See Help:References for how to manage references in GONUTS.
  1. ↑ 1.0 1.1 Chiang MC et al. (2007) Dysregulation of C/EBPalpha by mutant Huntingtin causes the urea cycle deficiency in Huntington's disease. Hum Mol Genet 16: 483-98 PubMed GONUTS page
  2. ↑ Bertaux F et al. (1998) HAP1-huntingtin interactions do not contribute to the molecular pathology in Huntington's disease transgenic mice. FEBS Lett 426: 229-32 PubMed GONUTS page
  3. ↑ 3.0 3.1 3.2 3.3 Gauthier LR et al. (2004) Huntingtin controls neurotrophic support and survival of neurons by enhancing BDNF vesicular transport along microtubules. Cell 118: 127-38 PubMed GONUTS page
  4. ↑ Kaltenbach LS et al. (2007) Huntingtin interacting proteins are genetic modifiers of neurodegeneration. PLoS Genet 3: e82 PubMed GONUTS page
  5. ↑ Luo S & Rubinsztein DC (2009) Huntingtin promotes cell survival by preventing Pak2 cleavage. J Cell Sci 122: 875-85 PubMed GONUTS page
  6. ↑ 6.0 6.1 6.2 Trushina E et al. (2004) Mutant huntingtin impairs axonal trafficking in mammalian neurons in vivo and in vitro. Mol Cell Biol 24: 8195-209 PubMed GONUTS page
  7. ↑ 7.0 7.1 7.2 7.3 7.4 7.5 Hilditch-Maguire P et al. (2000) Huntingtin: an iron-regulated protein essential for normal nuclear and perinuclear organelles. Hum Mol Genet 9: 2789-97 PubMed GONUTS page
  8. ↑ 8.0 8.1 8.2 8.3 Hurlbert MS et al. (1999) Mice transgenic for an expanded CAG repeat in the Huntington's disease gene develop diabetes. Diabetes 48: 649-51 PubMed GONUTS page
  9. ↑ 9.0 9.1 9.2 Menalled LB et al. (2002) Early motor dysfunction and striosomal distribution of huntingtin microaggregates in Huntington's disease knock-in mice. J Neurosci 22: 8266-76 PubMed GONUTS page
  10. ↑ Wood JD et al. (1996) Partial characterisation of murine huntingtin and apparent variations in the subcellular localisation of huntingtin in human, mouse and rat brain. Hum Mol Genet 5: 481-7 PubMed GONUTS page
  11. ↑ Wheeler VC et al. (2000) Long glutamine tracts cause nuclear localization of a novel form of huntingtin in medium spiny striatal neurons in HdhQ92 and HdhQ111 knock-in mice. Hum Mol Genet 9: 503-13 PubMed GONUTS page
  12. ↑ 12.0 12.1 12.2 12.3 Clabough EB & Zeitlin SO (2006) Deletion of the triplet repeat encoding polyglutamine within the mouse Huntington's disease gene results in subtle behavioral/motor phenotypes in vivo and elevated levels of ATP with cellular senescence in vitro. Hum Mol Genet 15: 607-23 PubMed GONUTS page
  13. ↑ Trottier Y et al. (1995) Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated form. Nat Genet 10: 104-10 PubMed GONUTS page
  14. ↑ Tatter SB et al. (1995) Effects of striatal excitotoxicity on huntingtin-like immunoreactivity. Neuroreport 6: 1125-9 PubMed GONUTS page
  15. ↑ 15.0 15.1 Bhide PG et al. (1996) Expression of normal and mutant huntingtin in the developing brain. J Neurosci 16: 5523-35 PubMed GONUTS page
  16. ↑ 16.0 16.1 16.2 Brustovetsky N et al. (2005) Age-dependent changes in the calcium sensitivity of striatal mitochondria in mouse models of Huntington's Disease. J Neurochem 93: 1361-70 PubMed GONUTS page
  17. ↑ 17.0 17.1 Zeitlin S et al. (1995) Increased apoptosis and early embryonic lethality in mice nullizygous for the Huntington's disease gene homologue. Nat Genet 11: 155-63 PubMed GONUTS page
  18. ↑ Omi K et al. (2005) siRNA-mediated inhibition of endogenous Huntington disease gene expression induces an aberrant configuration of the ER network in vitro. Biochem Biophys Res Commun 338: 1229-35 PubMed GONUTS page
  19. ↑ 19.0 19.1 19.2 Heng MY et al. (2007) Longitudinal evaluation of the Hdh(CAG)150 knock-in murine model of Huntington's disease. J Neurosci 27: 8989-98 PubMed GONUTS page
  20. ↑ 20.0 20.1 20.2 20.3 Dragatsis I et al. (2000) Inactivation of Hdh in the brain and testis results in progressive neurodegeneration and sterility in mice. Nat Genet 26: 300-6 PubMed GONUTS page
  21. ↑ 21.0 21.1 21.2 21.3 21.4 Nasir J et al. (1995) Targeted disruption of the Huntington's disease gene results in embryonic lethality and behavioral and morphological changes in heterozygotes. Cell 81: 811-23 PubMed GONUTS page
  22. ↑ Duyao MP et al. (1995) Inactivation of the mouse Huntington's disease gene homolog Hdh. Science 269: 407-10 PubMed GONUTS page
  23. ↑ 23.0 23.1 White JK et al. (1997) Huntingtin is required for neurogenesis and is not impaired by the Huntington's disease CAG expansion. Nat Genet 17: 404-10 PubMed GONUTS page
  24. ↑ 24.0 24.1 24.2 Ryan AB et al. (2006) Genetic interaction between expanded murine Hdh alleles and p53 reveal deleterious effects of p53 on Huntington's disease pathogenesis. Neurobiol Dis 24: 419-27 PubMed GONUTS page
  25. ↑ Yamamoto A et al. (2000) Reversal of neuropathology and motor dysfunction in a conditional model of Huntington's disease. Cell 101: 57-66 PubMed GONUTS page
  26. ↑ Brooks SP et al. (2006) Selective extra-dimensional set shifting deficit in a knock-in mouse model of Huntington's disease. Brain Res Bull 69: 452-7 PubMed GONUTS page
  27. ↑ 27.0 27.1 27.2 Lin CH et al. (2001) Neurological abnormalities in a knock-in mouse model of Huntington's disease. Hum Mol Genet 10: 137-44 PubMed GONUTS page
  28. ↑ Reiner A et al. (2001) Neurons lacking huntingtin differentially colonize brain and survive in chimeric mice. J Neurosci 21: 7608-19 PubMed GONUTS page
  29. ↑ 29.0 29.1 Menalled LB et al. (2003) Time course of early motor and neuropathological anomalies in a knock-in mouse model of Huntington's disease with 140 CAG repeats. J Comp Neurol 465: 11-26 PubMed GONUTS page
  30. ↑ Desplats PA et al. (2008) Functional roles for the striatal-enriched transcription factor, Bcl11b, in the control of striatal gene expression and transcriptional dysregulation in Huntington's disease. Neurobiol Dis 31: 298-308 PubMed GONUTS page
  31. ↑ Trueman RC et al. (2007) The operant serial implicit learning task reveals early onset motor learning deficits in the Hdh knock-in mouse model of Huntington's disease. Eur J Neurosci 25: 551-8 PubMed GONUTS page
  32. ↑ 32.0 32.1 32.2 Woda JM et al. (2005) Inactivation of the Huntington's disease gene (Hdh) impairs anterior streak formation and early patterning of the mouse embryo. BMC Dev Biol 5: 17 PubMed GONUTS page
  33. ↑ Irwin S et al. (2005) RNA association and nucleocytoplasmic shuttling by ataxin-1. J Cell Sci 118: 233-42 PubMed GONUTS page
  34. ↑ 34.0 34.1 Lee JM et al. (2007) Unbiased gene expression analysis implicates the huntingtin polyglutamine tract in extra-mitochondrial energy metabolism. PLoS Genet 3: e135 PubMed GONUTS page
  35. ↑ 35.0 35.1 Guidetti P et al. (2006) Elevated brain 3-hydroxykynurenine and quinolinate levels in Huntington disease mice. Neurobiol Dis 23: 190-7 PubMed GONUTS page
  36. ↑ 36.0 36.1 Kennedy L & Shelbourne PF (2000) Dramatic mutation instability in HD mouse striatum: does polyglutamine load contribute to cell-specific vulnerability in Huntington's disease? Hum Mol Genet 9: 2539-44 PubMed GONUTS page
  37. ↑ Meade CA et al. (2002) Cellular localization and development of neuronal intranuclear inclusions in striatal and cortical neurons in R6/2 transgenic mice. J Comp Neurol 449: 241-69 PubMed GONUTS page
  38. ↑ Shelbourne PF et al. (1999) A Huntington's disease CAG expansion at the murine Hdh locus is unstable and associated with behavioural abnormalities in mice. Hum Mol Genet 8: 763-74 PubMed GONUTS page
  39. ↑ Menalled L et al. (2000) Decrease in striatal enkephalin mRNA in mouse models of Huntington's disease. Exp Neurol 162: 328-42 PubMed GONUTS page
  40. ↑ Usdin MT et al. (1999) Impaired synaptic plasticity in mice carrying the Huntington's disease mutation. Hum Mol Genet 8: 839-46 PubMed GONUTS page
  41. ↑ 41.0 41.1 Lynch G et al. (2007) Brain-derived neurotrophic factor restores synaptic plasticity in a knock-in mouse model of Huntington's disease. J Neurosci 27: 4424-34 PubMed GONUTS page
  42. ↑ 42.0 42.1 42.2 O'Kusky JR et al. (1999) Neuronal degeneration in the basal ganglia and loss of pallido-subthalamic synapses in mice with targeted disruption of the Huntington's disease gene. Brain Res 818: 468-79 PubMed GONUTS page
  43. ↑ 43.0 43.1 Li H et al. (2000) Amino-terminal fragments of mutant huntingtin show selective accumulation in striatal neurons and synaptic toxicity. Nat Genet 25: 385-9 PubMed GONUTS page
  44. ↑ Metzler M et al. (1999) Life without huntingtin: normal differentiation into functional neurons. J Neurochem 72: 1009-18 PubMed GONUTS page
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