FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Hsap\HTTQ108.ex1p.UAS
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General Information
Symbol
Hsap\HTTQ108.ex1p.UAS
Species
H. sapiens
Name
FlyBase ID
FBal0219583
Feature type
allele
Associated gene
Hsap\HTT
Associated Insertion(s)
Carried in Construct
P{UAS-HTT.Q108}
Key Links
Transgenic product class
inframe_deletion
(Iijima-Ando et al., 2005)
trinucleotide_repeat_expansion
(Iijima-Ando et al., 2005)
Mutagen
Nature of the Allele
Transgenic product class
inframe_deletion
(Iijima-Ando et al., 2005)
trinucleotide_repeat_expansion
(Iijima-Ando et al., 2005)
Mutagen
in vitro construct
(Iijima-Ando et al., 2005)
Progenitor genotype
Carried in construct
P{UAS-HTT.Q108}
Cytology
Description

UAS sequences drive expression of a mutated first exon of the Hsap\HTT gene which has had its polyglutamine domain extended to 108 Glutamines.

(Iijima-Ando et al., 2005)
Allele components
Component
Use(s)
Regulatory region(s)
UAS
Encoded product / tool
Hsap\HTT
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
      (Iijima-Ando et al., 2005)
      Modifiers Based on Experimental Evidence ( 0 )
      Disease
      Interaction
      References
      Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
       
      Disease-implicated variant(s)
       
      This allele represents a human variant implicated in disease.
      (Iijima-Ando et al., 2005)
      HTT:p.Gln18[108]
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      HTT:p.Gln18[108Gln]
      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

      Hsap\HDQ108.ex1p.Scer\UAS, under the regulation of Scer\GAL4elav-C155 in postmitotic neurons results in partial lethality.

      Flies in which Hsap\HDQ108.ex1p.Scer\UAS is expressed under the control of Scer\GAL4elav-C155 exhibit a severe decrease in activity when assessed using a climbing assay.

      (Iijima-Ando et al., 2005)
      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

      Expression of Hsc70-4K71S.Scer\UAS in flies expressing Hsap\HDQ108.ex1p.Scer\UAS, both under the control of Scer\GAL4elav-C155, increases the survival rate from almost 0% to over 80%.

      Expression of Hsc70-4K71S.Scer\UAS in flies expressing Hsap\HDQ108.ex1p.Scer\UAS under the control of Scer\GAL4elav-C155 in a CrebB-17A+tIa transgene background increases the survival rate from approximately 10% in Hsap\HDQ108.ex1p.Scer\UAS (Scer\GAL4elav-C155) CrebB-17A+tIa mutants, to over 100%, indicating a synergistic effect between Hsc70-4K71S.Scer\UAS and CrebB-17A+tIa.

      The presence of the CrebB-17A+tIa transgene does not suppress Hsap\HDQ108.ex1p.Scer\UAS-mediated locomotor dysfunction.

      The presence of the Hsc70-4K71S.Scer\UAS transgene does partially suppress Hsap\HDQ108.ex1p.Scer\UAS-mediated locomotor dysfunction (when both are expressed under the control of Scer\GAL4elav-C155).

      CrebB-17A+tIa and Hsc70-4K71S.Scer\UAS transgenes additively suppress Hsap\HDQ108.ex1p.Scer\UAS-mediated locomotor dysfunction (under the control of Scer\GAL4elav-C155). This suppression is more dramatic as the flies age.

      (Iijima-Ando et al., 2005)
      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 (3)
      Reported As
      Symbol Synonym
      Hsap\HDQ108.ex1p.Scer\UAS
      Hsap\HTTQ108.ex1p.Scer\UAS
      Hsap\HTTQ108.ex1p.UAS
      Name Synonyms
      Secondary FlyBase IDs
        References (2)