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General Information
Symbol
Hsap\HTTQ72.ex1p.UAS.EGFP
Species
H. sapiens
Name
FlyBase ID
FBal0294197
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Also Known As
UAS-Httex1-Q72-eGFP
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 Hsap\HTT exon 1 containing a 72 residue expanded polyQ tract. The protein is tagged at the C-terminal end with EGFP.

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 )
Disease
Evidence
References
Modifiers Based on Experimental Evidence ( 1 )
Disease
Interaction
References
model of  amyloidosis
is ameliorated by unc-45+t
model of  cardiomyopathy
is ameliorated by unc-45+t
is ameliorated by EDTPGL01215
is ameliorated by EDTPHMS01577
is ameliorated by Fmr1GL00075
is ameliorated by Fmr1HMS00248
Comments on Models/Modifiers Based on Experimental Evidence ( 1 )
 

Flybase curator comment: Huntington's disease is associated with gene HTT.

Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

The expression of Hsap\HTTQ72.ex1p.UAS.EGFP under the control of Scer\GAL4P2.4.Pdf does not seem to have a major effect on circadian behavior, nor on the number of sLNv neurons.

Expression of Hsap\HTTQ72.ex1p.Scer\UAS.T:Avic\GFP-EGFP in the courtship circuit, under the control of Scer\GAL4fru-NP0021 abolishes the male preference for younger mates but does not affect their total courtship index.

Expression of Hsap\HTTQ72.ex1p.Scer\UAS.T:Avic\GFP-EGFP under the control of Scer\GAL4HCH.Hand results in a significant decrease in lifespan compared to controls.

3 week old flies expressing Hsap\HTTQ72.ex1p.Scer\UAS.T:Avic\GFP-EGFP under the control of Scer\GAL4HCH.Hand show a significant increase in systolic diameter, diastolic diameter, systolic interval, diastolic interval and cardiac arrhythmia compared to controls. Fractional shortening is significantly decreased. In addition morphological defects such as non-beating hearts, hearts with non-contractile regions and defective ostia are seen.

Myofibrillar organisation is severely disrupted in the hearts of 3 week old flies expressing Hsap\HTTQ72.ex1p.Scer\UAS.T:Avic\GFP-EGFP under the control of Scer\GAL4HCH.Hand : the normal circumferential arrangement of myofibrils is nearly lost and there is a loss of actin-containing myofibrils. Aggregates of Hsap\HTTQ72.ex1p.Scer\UAS.T:Avic\GFP-EGFP protein are distributed throughout the cardiomyocytes.

Flies expressing Hsap\HTTQ72.ex1p.Scer\UAS.T:Avic\GFP-EGFP under the control of Scer\GAL4GMR.PU show age-dependent formation of Hsap\HTT protein aggregates in the eye.

External Data
Interactions
Show genetic interaction network for Enhancers & Suppressors
Phenotypic Class
Phenotype Manifest In
Suppressed by
Additional Comments
Genetic Interactions
Statement
Reference
Xenogenetic Interactions
Statement
Reference

Co-expression of unc-45+t significantly reduces cardiac dysfunction of 3 week old flies expressing Hsap\HTTQ72.ex1p.Scer\UAS.T:Avic\GFP-EGFP under the control of Scer\GAL4HCH.Hand. The defects in systolic diameter, diastolic diameter, systolic interval, fractional shortening and cardiac arrhythmia are all significantly suppressed. The density of Hsap\HTTQ72.ex1p.Scer\UAS.T:Avic\GFP-EGFP protein aggregates is also significantly reduced while the average size of the aggregates is unchanged.

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\HTTQ72.ex1p.Scer\UAS.T:Avic\GFP-EGFP
Hsap\HTTQ72.ex1p.UAS.EGFP
Name Synonyms
Secondary FlyBase IDs
    References (9)