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General Information
Symbol
Hsap\HTT128Q.1-336.UAS
Species
H. sapiens
Name
FlyBase ID
FBal0294194
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Allele class
Nature of the Allele
Allele class
Mutations Mapped to the Genome
 
Type
Location
Additional Notes
References
Associated Sequence Data
DNA sequence
Protein sequence
 
 
Progenitor genotype
Carried in construct
Cytology
Nature of the lesion
Statement
Reference
UASt regulatory sequences drive expression of the first 336 amino acids of Hsap\HTT, including a 128Q expansion in exon 1.
Allele components
Product class / Tool use(s)
Encoded product / tool
Expression Data
Reporter Expression
Additional Information
Statement
Reference
 
Marker for
Reflects expression of
Reporter construct used in assay
Human Disease Associations
Disease Ontology (DO) Annotations
Models Based on Experimental Evidence ( 1 )
Modifiers Based on Experimental Evidence ( 1 )
Disease
Interaction
References
is ameliorated by arm3
is ameliorated by Khc8
is exacerbated by Pgi2
is ameliorated by pnutXP
is exacerbated by shot3
is exacerbated by PginNC1
is exacerbated by fafBX4
is ameliorated by Chc1
is ameliorated by arm2
is ameliorated by Mef2X1
is exacerbated by eff8
is ameliorated by DnaJ-1EP411
is exacerbated by skdL7062
is exacerbated by taraEP3463
is exacerbated by cpoEP3378
is ameliorated by pumbem
is ameliorated by sovKG00226
is exacerbated by Sin3AdQ4
is exacerbated by Sirt1EP2300
is exacerbated by pumEP3461
is ameliorated by 14-3-3εex4
is exacerbated by Diap14
is exacerbated by Akt104226
is exacerbated by mubEP3623
is exacerbated by vibEP651
is exacerbated by vibEP513
is exacerbated by sovEP1438
is ameliorated by solGD8164
is ameliorated by SppLGD284
is ameliorated by Mmp2BG00958
is ameliorated by SppLEY06831
is ameliorated by golGD3528
is ameliorated by Mmp202353
is exacerbated by solEY02771
Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
 
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference
Expression of Hsap\HTT128Q.1-336.Scer\UAS under the control of Scer\GAL4GMR.PU results in photoreceptor degeneration, as compared to controls. Expression of Hsap\HTT128Q.1-336.Scer\UAS under the control of Scer\GAL4elav.PU results in climbing defects, as compared to controls.
Flies expressing Hsap\HTT128Q.1-336.Scer\UAS under the control of Scer\GAL4elav.PU show a progressive decrease in climbing ability with age.
Flies expressing Hsap\HTT128Q.1-336.Scer\UAS under the control of Scer\GAL4GMR.PU show mild ommatidial disorganisation and bristle loss phenotypes. Severe disorganization, tissue loss and vacuolisation are seen in the retina. The phenotype becomes more severe with age. Expression of Hsap\HTT128Q.1-336.Scer\UAS under the control of Scer\GAL4ey-OK107 results in the progressive formation of neuronal nuclear inclusions. Flies expressing Hsap\HTT128Q.1-336.Scer\UAS under the control of Scer\GAL4nrv2.PS exhibit progressive climbing defects.
Expression of Hsap\HTT128Q.1-336.Scer\UAS under the control of Scer\GAL4GMR.PU results in a degenerative retina phenotype which consists of shortening and detachment of the retina as well as the presence of vacuoles. Defects are also seen externally in the eye. Flies expressing Hsap\HTT128Q.1-336.Scer\UAS under the control of Scer\GAL4elav.PU have a shortened lifespan compared to controls and show a progressive decrease in climbing ability with age.
External Data
Interactions
Show genetic interaction network for Enhancers & Suppressors
Phenotypic Class
Enhanced by
Statement
Reference
Suppressed by
Statement
Reference
NOT suppressed by
Phenotype Manifest In
Enhanced by
Statement
Reference
NOT Enhanced by
Statement
Reference
Hsap\HTT128Q.1-336.UAS, Scer\GAL4GMR.PU has retina phenotype, non-enhanceable by Sc2[+]/Sc205634
Hsap\HTT128Q.1-336.UAS, Scer\GAL4GMR.PU has retina phenotype, non-enhanceable by HDAC104556/Rpd3[+]
Hsap\HTT128Q.1-336.UAS, Scer\GAL4GMR.PU has retina phenotype, non-enhanceable by CtBP[+]/CtBP03463
Hsap\HTT128Q.1-336.UAS, Scer\GAL4GMR.PU has retina phenotype, non-enhanceable by GstS1[+]/GstS106253
Hsap\HTT128Q.1-336.UAS, Scer\GAL4GMR.PU has retina phenotype, non-enhanceable by mub04093/mub[+]
Suppressed by
Statement
Reference
Hsap\HTT128Q.1-336.UAS, Scer\GAL4GMR.PU has retina phenotype, suppressible by 14-3-3εex4/14-3-3epsilon[+]
Hsap\HTT128Q.1-336.UAS, Scer\GAL4GMR.PU has retina phenotype, suppressible by 14-3-3εj2B10/14-3-3epsilon[+]
Hsap\HTT128Q.1-336.UAS, Scer\GAL4GMR.PU has retina phenotype, suppressible by CG14438[+]/sovKG00226
NOT suppressed by
Additional Comments
Genetic Interactions
Statement
Reference
Xenogenetic Interactions
Statement
Reference
Co-expression of CRMPEY04380 or Hsap\CRMP1Scer\UAS.T:Hsap\MYC, but not Hsap\CRMP1D408V.Scer\UAS, partially suppresses the photoreceptor degeneration seen in flies expressing Hsap\HTT128Q.1-336.Scer\UAS under the control of Scer\GAL4GMR.PU. Co-expression of Hsap\CRMP1Scer\UAS.T:Hsap\MYC partially suppresses the climbing defects seen in flies expressing Hsap\HTT128Q.1-336.Scer\UAS under the control of Scer\GAL4elav.PU.
Expression of DnaJ-1EP411 suppresses the retinal phenotype seen when Hsap\HTT128Q.1-336.Scer\UAS is expressed under the control of Scer\GAL4GMR.PU. Expression of Hsc70-3K97S.Scer\UAS enhances the retinal phenotype seen when Hsap\HTT128Q.1-336.Scer\UAS is expressed under the control of Scer\GAL4GMR.PU. eff8 enhances the retinal phenotype seen when Hsap\HTT128Q.1-336.Scer\UAS is expressed under the control of Scer\GAL4GMR.PU. Expression of Hsap\STUB1Scer\UAS.cAa suppresses the retinal phenotype seen when Hsap\HTT128Q.1-336.Scer\UAS is expressed under the control of Scer\GAL4GMR.PU. Sin3AdQ4 enhances the retinal phenotype seen when Hsap\HTT128Q.1-336.Scer\UAS is expressed under the control of Scer\GAL4GMR.PU. One copy of skdL7062 enhances the retinal phenotype seen when Hsap\HTT128Q.1-336.Scer\UAS is expressed under the control of Scer\GAL4GMR.PU. Expression of Sir2EP2300 enhances the retinal phenotype seen when Hsap\HTT128Q.1-336.Scer\UAS is expressed under the control of Scer\GAL4GMR.PU. Expression of taraEP3463 enhances the retinal phenotype seen when Hsap\HTT128Q.1-336.Scer\UAS is expressed under the control of Scer\GAL4GMR.PU. Expression of cpoEP3378 enhances the retinal phenotype seen when Hsap\HTT128Q.1-336.Scer\UAS is expressed under the control of Scer\GAL4GMR.PU. Expression of pumEP3461 enhances the retinal phenotype seen when Hsap\HTT128Q.1-336.Scer\UAS is expressed under the control of Scer\GAL4GMR.PU. One copy of pumbem suppresses the retinal phenotype seen when Hsap\HTT128Q.1-336.Scer\UAS is expressed under the control of Scer\GAL4GMR.PU. Expression of 14-3-3εScer\UAS.cCa enhances the retinal phenotype seen when Hsap\HTT128Q.1-336.Scer\UAS is expressed under the control of Scer\GAL4GMR.PU. One copy of 14-3-3εex4 suppresses the retinal phenotype seen when Hsap\HTT128Q.1-336.Scer\UAS is expressed under the control of Scer\GAL4GMR.PU. One copy of 14-3-3εj2B10 suppresses the retinal phenotype seen when Hsap\HTT128Q.1-336.Scer\UAS is expressed under the control of Scer\GAL4GMR.PU. Expression of RhoGAPp190EP1357 enhances the retinal phenotype seen when Hsap\HTT128Q.1-336.Scer\UAS is expressed under the control of Scer\GAL4GMR.PU. Expression of thScer\UAS.T:Hsap\MYC.cHa suppresses the retinal phenotype seen when Hsap\HTT128Q.1-336.Scer\UAS is expressed under the control of Scer\GAL4GMR.PU. One copy of th4 enhances the retinal phenotype seen when Hsap\HTT128Q.1-336.Scer\UAS is expressed under the control of Scer\GAL4GMR.PU. One copy of Hsrωneo55 does not enhance the retinal phenotype seen when Hsap\HTT128Q.1-336.Scer\UAS is expressed under the control of Scer\GAL4GMR.PU. One copy of Sc205634 does not enhance the retinal phenotype seen when Hsap\HTT128Q.1-336.Scer\UAS is expressed under the control of Scer\GAL4GMR.PU. One copy of Rpd304556 does not enhance the retinal phenotype seen when Hsap\HTT128Q.1-336.Scer\UAS is expressed under the control of Scer\GAL4GMR.PU. One copy of CtBP03463 does not enhance the retinal phenotype seen when Hsap\HTT128Q.1-336.Scer\UAS is expressed under the control of Scer\GAL4GMR.PU. One copy of ps3 does not suppress the retinal phenotype seen when Hsap\HTT128Q.1-336.Scer\UAS is expressed under the control of Scer\GAL4GMR.PU. One copy of psj449 does not suppress the retinal phenotype seen when Hsap\HTT128Q.1-336.Scer\UAS is expressed under the control of Scer\GAL4GMR.PU. One copy of GstS106253 does not enhance the retinal phenotype seen when Hsap\HTT128Q.1-336.Scer\UAS is expressed under the control of Scer\GAL4GMR.PU. Expression of Nup44AEP2417 does not suppress the retinal phenotype seen when Hsap\HTT128Q.1-336.Scer\UAS is expressed under the control of Scer\GAL4GMR.PU. Expression of Akt1Scer\UAS.T:Ivir\HA1 suppresses the retinal phenotype seen when Hsap\HTT128Q.1-336.Scer\UAS is expressed under the control of Scer\GAL4GMR.PU. One copy of Akt104226 enhances the retinal phenotype seen when Hsap\HTT128Q.1-336.Scer\UAS is expressed under the control of Scer\GAL4GMR.PU. Expression of mubEP3623 enhances the retinal phenotype seen when Hsap\HTT128Q.1-336.Scer\UAS is expressed under the control of Scer\GAL4GMR.PU. One copy of mub04093 does not enhance the retinal phenotype seen when Hsap\HTT128Q.1-336.Scer\UAS is expressed under the control of Scer\GAL4GMR.PU. Expression of vibEP651 enhances the retinal phenotype seen when Hsap\HTT128Q.1-336.Scer\UAS is expressed under the control of Scer\GAL4GMR.PU. Expression of vibEP513 enhances the retinal phenotype seen when Hsap\HTT128Q.1-336.Scer\UAS is expressed under the control of Scer\GAL4GMR.PU. Expression of CG14438EP1438 enhances the retinal phenotype seen when Hsap\HTT128Q.1-336.Scer\UAS is expressed under the control of Scer\GAL4GMR.PU. One copy of CG14438KG00226 suppresses the retinal phenotype seen when Hsap\HTT128Q.1-336.Scer\UAS is expressed under the control of Scer\GAL4GMR.PU. Expression of Pi3K92EScer\UAS.T:Hsap\MYC suppresses the retinal phenotype seen when Hsap\HTT128Q.1-336.Scer\UAS is expressed under the control of Scer\GAL4GMR.PU. Expression of mubEP3623 enhances the climbing defects seen when Hsap\HTT128Q.1-336.Scer\UAS is expressed under the control of Scer\GAL4nrv2.PS. Expression of vibEP651 enhances the climbing defects seen when Hsap\HTT128Q.1-336.Scer\UAS is expressed under the control of Scer\GAL4nrv2.PS. Expression of CG14438EP1438 increases the number of neurons that contain nuclear inclusions seen when Hsap\HTT128Q.1-336.Scer\UAS is expressed under the control of Scer\GAL4ey-OK107. One copy of CG14438KG00226 has no effect on the number of neurons that contain nuclear inclusions seen when Hsap\HTT128Q.1-336.Scer\UAS is expressed under the control of Scer\GAL4ey-OK107. Expression of Hsap\STUB1Scer\UAS.cAa dramatically increases the number of neurons that contain nuclear inclusions seen when Hsap\HTT128Q.1-336.Scer\UAS is expressed under the control of Scer\GAL4ey-OK107.
Complementation and Rescue Data
Comments
Images (0)
Mutant
Wild-type
Stocks (0)
Notes on Origin
Discoverer
External Crossreferences and Linkouts ( 0 )
Synonyms and Secondary IDs (2)
Reported As
Symbol Synonym
Hsap\HTT128Q.1-336.Scer\UAS
Hsap\HTT128Q.1-336.UAS
Name Synonyms
Secondary FlyBase IDs
    References (5)