FB2025_01 , released February 20, 2025
Allele: Hsap\HTTQ72.ex1p.UAS.EGFP
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General Information
Symbol
Hsap\HTTQ72.ex1p.UAS.EGFP
Species
H. sapiens
Name
FlyBase ID
FBal0294197
Feature type
allele
Associated gene
Hsap\HTT
Associated Insertion(s)
Carried in Construct
P{UAS-Httex1p-Q72-eGFP}
Also Known As
UAS-Httex1-Q72-eGFP, UAS-Htt-Q72-GFP
Key Links
Transgenic product class
inframe_deletion
(Zhang et al., 2010)
trinucleotide_repeat_expansion
(Zhang et al., 2010)
Mutagen
Nature of the Allele
Transgenic product class
inframe_deletion
(Zhang et al., 2010)
trinucleotide_repeat_expansion
(Zhang et al., 2010)
Mutagen
in vitro construct
(Zhang et al., 2010)
Progenitor genotype
Carried in construct
P{UAS-Httex1p-Q72-eGFP}
Cytology
Description

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.

(Zhang et al., 2010)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
Hsap\HTT
Tagged with
EGFP
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
Variant Molecular Consequences
Associated Sequence Data
DDBJ / EMBL / GenBank
DNA sequence
Protein sequence
 
UniProtKB/Swiss-Prot
    UniProtKB/TrEMBL
      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
      model of  amyloidosis
      is ameliorated by unc-45+t
      (Melkani et al., 2013)
      model of  cardiomyopathy
      is ameliorated by unc-45+t
      (Melkani et al., 2013)
      model of  Huntington's disease
      is ameliorated by EDTPGL01215
      (Xiao and Qiu, 2019)
      is ameliorated by EDTPHMS01577
      (Xiao and Qiu, 2019)
      is ameliorated by Fmr1GL00075
      (Xu et al., 2019)
      is ameliorated by Fmr1HMS00248
      (Xu et al., 2019)
      Comments on Models/Modifiers Based on Experimental Evidence ( 1 )
       

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

      (Xiao and Qiu, 2019)
      Disease-implicated variant(s)
       
      This allele represents a human variant implicated in disease.
      (Zhang et al., 2010)
      HTT:p.Gln18[72]
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      HTT:p.Gln18[72Gln]
      HTT, (CAG)n REPEAT EXPANSION
      Associated human disease model(s)
      External database links
      ClinVar: HTT_409
      Comments concerning this variant
      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.

      (Xu et al., 2019)

      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.

      (Hu et al., 2014)

      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.

      (Melkani et al., 2013)

      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.

      (Zhang et al., 2010)
      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.

      (Melkani et al., 2013)
      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 (14)