FB2024_04 , released June 25, 2024
Allele: Hsap\HTT98Q.Ex1.UAS.EGFP.Tag:NLS(Unk)
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General Information
Symbol
Hsap\HTT98Q.Ex1.UAS.EGFP.Tag:NLS(Unk)
Species
H. sapiens
Name
FlyBase ID
FBal0258493
Feature type
allele
Associated gene
Hsap\HTT
Associated Insertion(s)
Carried in Construct
P{UAS-nls.Htt.98Q-EGFP}
Key Links
Transgenic product class
inframe_deletion
(Doumanis et al., 2009)
trinucleotide_repeat_expansion
(Doumanis et al., 2009)
Mutagen
Nature of the Allele
Transgenic product class
inframe_deletion
(Doumanis et al., 2009)
trinucleotide_repeat_expansion
(Doumanis et al., 2009)
Mutagen
in vitro construct
(Doumanis et al., 2009)
Progenitor genotype
Carried in construct
P{UAS-nls.Htt.98Q-EGFP}
Cytology
Description

UAS regulatory sequences drive expression of Hsap\HTT coding sequences corresponding to exon 1 with a 98Q expansion, tagged at the N-terminal with a nuclear localization signal and at the C-terminal with EGFP.

(Doumanis et al., 2009)
Allele components
Component
Use(s)
Regulatory region(s)
UAS
Encoded product / tool
Hsap\HTT
Tagged with
EGFP
Tag:NLS(Unk)
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 )
      Disease
      Evidence
      References
      model of  Huntington's disease
      CEA
      (Doumanis et al., 2009)
      Modifiers Based on Experimental Evidence ( 1 )
      Disease
      Interaction
      References
      model of  Huntington's disease
      is ameliorated by Nup160GD11413
      (Doumanis et al., 2009)
      is ameliorated by kriGD11686
      (Doumanis et al., 2009)
      Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
       
      Disease-implicated variant(s)
       
      This allele represents a human variant implicated in disease.
      (Doumanis et al., 2009)
      HTT:p.Gln18[98]
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      HTT:p.Gln18[98Gln]
      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

      Expression of Hsap\HTT98Q.Ex1.Scer\UAS.T:Avic\GFP-EGFP.T:Zzzz\nls1 in the developing nervous system under the control of Scer\GAL4elav-C155 generates a number of visible aggregates in the four week old male brain.

      (Doumanis et al., 2009)
      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 CG5537GD11686 in a Hsap\HTT98Q.Ex1.Scer\UAS.T:Avic\GFP-EGFP.T:Zzzz\nls1 mutant brain (with both transgenes under the control of Scer\GAL4elav-C155) significantly decreases the average number and size of brain aggregate inclusions compared to flies expressing Hsap\HTT98Q.Ex1.Scer\UAS.T:Avic\GFP-EGFP.T:Zzzz\nls1 alone.

      Co-expression of Nup160GD11413 in a Hsap\HTT98Q.Ex1.Scer\UAS.T:Avic\GFP-EGFP.T:Zzzz\nls1 mutant brain (with both transgenes under the control of Scer\GAL4elav-C155) significantly decreases the average number and size of brain aggregate inclusions compared to flies expressing Hsap\HTT98Q.Ex1.Scer\UAS.T:Avic\GFP-EGFP.T:Zzzz\nls1 alone.

      Co-expression of RhebScer\UAS.cPa in a Hsap\HTT98Q.Ex1.Scer\UAS.T:Avic\GFP-EGFP.T:Zzzz\nls1 mutant brain (with both transgenes under the control of Scer\GAL4elav-C155) does not significantly increase the average number of brain aggregate inclusions compared to flies expressing Hsap\HTT98Q.Ex1.Scer\UAS.T:Avic\GFP-EGFP.T:Zzzz\nls1 alone, but does increase the average aggregate size.

      (Doumanis et al., 2009)
      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 (4)
      Reported As
      Symbol Synonym
      Hsap\HTT98Q.Ex1.Scer\UAS.T:Avic\GFP-EGFP.T:Uuuu\nls-Unk
      Hsap\HTT98Q.Ex1.Scer\UAS.T:Avic\GFP-EGFP.T:Zzzz\nls-KKKRKV
      Hsap\HTT98Q.Ex1.Scer\UAS.T:Avic\GFP-EGFP.T:Zzzz\nls1
      Hsap\HTT98Q.Ex1.UAS.EGFP.Tag:NLS(Unk)
      Name Synonyms
      Secondary FlyBase IDs
        References (3)