FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Hsap\HTTQ48.ex1p.UAS
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General Information
Symbol
Hsap\HTTQ48.ex1p.UAS
Species
H. sapiens
Name
FlyBase ID
FBal0219582
Feature type
allele
Associated gene
Hsap\HTT
Associated Insertion(s)
Carried in Construct
P{UAS-HTT.Q48}
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.Q48}
Cytology
Description

UAS sequences drive expression of a mutated first exon of the Hsap\HTT gene which has had its polyglutamine domain extended to 48 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 ( 1 )
      Disease
      Interaction
      References
      model of  Huntington's disease
      is ameliorated by Hsc70-4K71S.UAS
      (Iijima-Ando et al., 2005)
      is ameliorated by Mmus\Prkacahs.PJ
      (Iijima-Ando et al., 2005)
      is exacerbated by CrebBS162
      (Iijima-Ando et al., 2005)
      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[48]
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      HTT:p.Gln18[48Gln]
      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\HDQ48.ex1p.Scer\UAS expression, under the regulation of Scer\GAL4elav-C155 in postmitotic neurons results in partial lethality, leading to a survival rate (to adult stage) of approximately 12-18%.

      (Iijima-Ando et al., 2005)
      External Data
      Interactions
      Show genetic interaction network for Enhancers & Suppressors
      Phenotypic Class
      Enhanced by
      Statement
      Reference

      Hsap\HTTQ48.ex1p.UAS, Scer\GAL4elav-C155 has partially lethal - majority die phenotype, enhanceable by CrebBS162/CrebB-17A[+]

      (Iijima-Ando et al., 2005)
      Suppressed by
      NOT suppressed by
      Other
      Phenotype Manifest In
      Additional Comments
      Genetic Interactions
      Statement
      Reference
      Xenogenetic Interactions
      Statement
      Reference

      The survival rate of flies expressing Hsap\HDQ48.ex1p.Scer\UAS in the nervous system (under the regulation of Scer\GAL4elav-C155) is sensitive to the gene dosage of CrebB-17AS162 flies. A CrebB-17AS162 heterozygous background more than doubles the lethality of Hsap\HDQ48.ex1p.Scer\UAS flies compared to flies expressing Hsap\HDQ48.ex1p.Scer\UAS alone (under the control of Scer\GAL4elav-C155).

      The survival rate of flies expressing Hsap\HDQ48.ex1p.Scer\UAS in the nervous system (under the regulation of Scer\GAL4elav-C155) is enhanced by the addition of CrebB-17A+tIa, leading to a survival rate of just over 20% (compared to approximately 15%). Addition of a heterozygous CrebB-17AS162 background to CrebB-17A+tIa Hsap\HDQ48.ex1p.Scer\UAS (Scer\GAL4elav-C155) flies reduces the survival rate slightly, although lethality is not as high as in Hsap\HDQ48.ex1p.Scer\UAS (Scer\GAL4elav-C155) flies.

      Homozygous CrebB-17AS162 flies expressing Hsap\HDQ48.ex1p.Scer\UAS under the control of Scer\GAL4elav-C155 are lethal. Addition of the CrebB-17A+t.STOP transgene to homozygous CrebB-17AS162 flies expressing Hsap\HDQ48.ex1p.Scer\UAS under the control of Scer\GAL4elav-C155 results in an approximate 1% survival rate.

      Addition of the CrebB-17A+t.STOP transgene to flies expressing Hsap\HDQ48.ex1p.Scer\UAS under the control of Scer\GAL4elav-C155 results in a reduction in survival rate of about 2%.

      Heat-shock (35[o]C for 30 minutes each day) of Mmmm\MEK1ΔN3.S218E.S222D.hs increases the survival rate of flies expressing Hsap\HDQ48.ex1p.Scer\UAS in the nervous system under the control of Scer\GAL4elav-C155 at 18[o]C and 22[o]C (~10% at 22[o]C and ~5% at 18[o]C). The increase in survival rate with Mmmm\MEK1ΔN3.S218E.S222D.hs is larger at 22[o]C than at 18[o]C, suggesting that this effect depends upon the level of Mmmm\MEK1ΔN3.S218E.S222D.hs expression.

      (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\HDQ48.ex1p.Scer\UAS
      Hsap\HTTQ48.ex1p.Scer\UAS
      Hsap\HTTQ48.ex1p.UAS
      Name Synonyms
      Secondary FlyBase IDs
        References (2)