FB2024_04 , released June 25, 2024
Allele: Hsap\HTTQ46.ex1p.UAS.EGFP
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General Information
Symbol
Hsap\HTTQ46.ex1p.UAS.EGFP
Species
H. sapiens
Name
FlyBase ID
FBal0294196
Feature type
allele
Associated gene
Hsap\HTT
Associated Insertion(s)
Carried in Construct
P{UAS-Httex1p-Q46-eGFP}
Also Known As
Httex1-Q46-eGFP, UAS-Httex1-Q46-eGFP
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-Q46-eGFP}
Cytology
Description

UASt regulatory sequences drive expression of Hsap\HTT exon 1 containing a 46 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  Huntington's disease
      is ameliorated by CalpAKK104532
      (Menzies et al., 2015)
      is ameliorated by CalpANIG.7563R
      (Menzies et al., 2015)
      is ameliorated by CalpANIG.18152R
      (Menzies et al., 2015)
      Comments on Models/Modifiers Based on Experimental Evidence ( 1 )
       

      Aggregates form in the eyes of flies expressing Hsap\HTTQ46.ex1p.Scer\UAS.T:Avic\GFP-EGFP under the control of Scer\GAL4GMR.PF. Fewer aggregates are observed after treatment with compounds SEN177 and SEN180.

      (Jimenez-Sanchez et al., 2015)
      Disease-implicated variant(s)
       
      This allele represents a human variant implicated in disease.
      (Zhang et al., 2010)
      HTT:p.Gln18[46]
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      HTT:p.Gln18[46Gln]
      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\HTTQ46.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)

      Aggregates form in the eyes of aged flies expressing Scer\GAL4GMR.PF>Hsap\HTTQ46.ex1p.Scer\UAS.T:Avic\GFP-EGFP.

      (Menzies et al., 2015)

      Expression of Hsap\HTTQ46.ex1p.Scer\UAS.T:Avic\GFP-EGFP under the control of Scer\GAL4HCH.Hand results in a small but significant decrease in lifespan compared to controls.

      3 week old flies expressing Hsap\HTTQ46.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.

      Myocardial cells of 4 week old flies expressing Hsap\HTTQ46.ex1p.Scer\UAS.T:Avic\GFP-EGFP under the control of Scer\GAL4HCH.Hand show myofibrillar degeneration and severe mitochondrial fragmentation.

      (Melkani et al., 2013)

      Flies expressing Hsap\HTTQ46.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.

      Flies expressing Hsap\HTTQ46.ex1p.Scer\UAS.T:Avic\GFP-EGFP under the control of Scer\GAL4elav.PU show age-dependent formation of Hsap\HTT protein aggregates in the brain.

      (Zhang et al., 2010)
      External Data
      Interactions
      Show genetic interaction network for Enhancers & Suppressors
      Phenotypic Class
      Phenotype Manifest In
      Additional Comments
      Genetic Interactions
      Statement
      Reference
      Xenogenetic Interactions
      Statement
      Reference

      Co-expression of CalpAKK104532 results in a clear reduction in the number of aggregates observed in the eyes of flies expressing Scer\GAL4GMR.PF>Hsap\HTTQ46.ex1p.Scer\UAS.T:Avic\GFP-EGFP.

      Co-expression of CalpANIG.7563R results in a clear reduction in the number of aggregates observed in the eyes of flies expressing Scer\GAL4GMR.PF>Hsap\HTTQ46.ex1p.Scer\UAS.T:Avic\GFP-EGFP.

      Co-expression of CalpANIG.18152R results in a clear reduction in the number of aggregates observed in the eyes of flies expressing Scer\GAL4GMR.PF>Hsap\HTTQ46.ex1p.Scer\UAS.T:Avic\GFP-EGFP.

      Co-expression of CalpAKK104532 in an Atg8aKG07569 mutant genetic background fails to reduce the number of aggregates observed in the eyes of flies expressing Scer\GAL4GMR.PF>Hsap\HTTQ46.ex1p.Scer\UAS.T:Avic\GFP-EGFP.

      (Menzies et al., 2015)
      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\HTTQ46.ex1p.Scer\UAS.T:Avic\GFP-EGFP
      Hsap\HTTQ46.ex1p.UAS.EGFP
      Name Synonyms
      Secondary FlyBase IDs
        References (7)