FB2024_03 , released June 25, 2024
Allele: Hsap\HTT152Q.Ex1.UAS.EGFP
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General Information
Symbol
Hsap\HTT152Q.Ex1.UAS.EGFP
Species
H. sapiens
Name
FlyBase ID
FBal0258488
Feature type
allele
Associated gene
Hsap\HTT
Associated Insertion(s)
Carried in Construct
P{UAS-Htt.152Q-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-Htt.152Q-EGFP}
Cytology
Description

UASt regulatory sequences drive expression of Hsap\HTT exon 1 containing a 152Q expansion, fused to EGFP.

(Doumanis et al., 2009)
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 ( 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.
      (Doumanis et al., 2009)
      HTT:p.Gln18[152]
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      HTT:p.Gln18[152Gln]
      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\HTT152Q.Ex1.Scer\UAS.T:Avic\GFP-EGFP in larval body wall sensory neurons under the control of Scer\GAL4RluA1 has no apparent effect on larval da neuron viability.

      Expression of Hsap\HTT152Q.Ex1.Scer\UAS.T:Avic\GFP-EGFP in larval body wall sensory neurons under the control of Scer\GAL4RluA1 results in the formation of cytoplasmic aggregates in the axon and cell body, and in addition aggregates are seen throughout the extensive dendritic arbors of the da neurons. There is also some limited aggregation in the nucelus.

      Expression of Hsap\HTT152Q.Ex1.Scer\UAS.T:Avic\GFP-EGFP in larval body wall sensory neurons under the control of Scer\GAL4RluA1 does not affect dendrite elaboration in da neurons of the dorsal cluster. Dendrites fully cover the field and project towards the dorsal midline to meet the contralateral dendrites, and also fully extend to segment boundaries.

      The speed of locomotion is not different in Hsap\HTT152Q.Ex1.Scer\UAS.T:Avic\GFP-EGFP expressing larva (driven by Scer\GAL4RluA1) compared to wild-type controls. The trajectory of larval locomotion is also not affected.

      (Nishimura et al., 2010)

      Expression of Hsap\HTT152Q.Ex1.Scer\UAS.T:Avic\GFP-EGFP in the developing eye using the Scer\GAL4GMR.PF driver does not produce a strong external eye phenotype.

      Expression of Hsap\HTT152Q.Ex1.Scer\UAS.T:Avic\GFP-EGFP and Hsap\HTT48Q.Ex1.Scer\UAS.T:Avic\GFP-EGFP.T:Zzzz\nls1 in the developing eye using the Scer\GAL4GMR.PF driver produces a degenerative eye phenotype characterized by loss of pigment cells and an increased occurrence of dark necrotic spots on the external eye.

      (Doumanis et al., 2009)
      External Data
      Interactions
      Show genetic interaction network for Enhancers & Suppressors
      Phenotypic Class
      Phenotype Manifest In
      Enhanced by
      Suppressed by
      Enhancer of
      Additional Comments
      Genetic Interactions
      Statement
      Reference
      Xenogenetic Interactions
      Statement
      Reference

      Expression of DnaJ-1Scer\UAS.cKa in the developing eye under the control of Scer\GAL4GMR.PF suppresses the eye phenotype found in flies mutant for both Hsap\HTT152Q.Ex1.Scer\UAS.T:Avic\GFP-EGFP and Hsap\HTT48Q.Ex1.Scer\UAS.T:Avic\GFP-EGFP.T:Zzzz\nls1.

      Overexpression of RhebScer\UAS.cPa in the developing eye enhances the phenotype seen in mutant flies co-expressing Hsap\HTT152Q.Ex1.Scer\UAS.T:Avic\GFP-EGFP and Hsap\HTT48Q.Ex1.Scer\UAS.T:Avic\GFP-EGFP.T:Zzzz\nls1 under the control of Scer\GAL4GMR.PF, with a severe rough eye phenotype and enhancement of pigment cell loss.

      Expression of CG1109GD7195 in the developing eye under the control of Scer\GAL4GMR.PF strongly suppresses the loss of pigment seen in mutant flies co-expressing Hsap\HTT152Q.Ex1.Scer\UAS.T:Avic\GFP-EGFP and Hsap\HTT48Q.Ex1.Scer\UAS.T:Avic\GFP-EGFP.T:Zzzz\nls1 under the control of Scer\GAL4GMR.PF. There is a clear decrease in the number of necrotic fly eyes in these progeny.

      Expression of CG5537GD11686 in the developing eye under the control of Scer\GAL4GMR.PF suppresses the loss of pigment seen in mutant flies co-expressing Hsap\HTT152Q.Ex1.Scer\UAS.T:Avic\GFP-EGFP and Hsap\HTT48Q.Ex1.Scer\UAS.T:Avic\GFP-EGFP.T:Zzzz\nls1 under the control of Scer\GAL4GMR.PF. There is a clear decrease in the number of necrotic fly eyes in these progeny.

      Expression of Nup160GD11413 in the developing eye under the control of Scer\GAL4GMR.PF strongly suppresses the loss of pigment seen in mutant flies co-expressing Hsap\HTT152Q.Ex1.Scer\UAS.T:Avic\GFP-EGFP and Hsap\HTT48Q.Ex1.Scer\UAS.T:Avic\GFP-EGFP.T:Zzzz\nls1 under the control of Scer\GAL4GMR.PF. There is a clear decrease in the number of necrotic fly eyes in these progeny.

      Expression of hiwGD14104 in the developing eye under the control of Scer\GAL4GMR.PF enhances the loss of pigment seen in mutant flies co-expressing Hsap\HTT152Q.Ex1.Scer\UAS.T:Avic\GFP-EGFP and Hsap\HTT48Q.Ex1.Scer\UAS.T:Avic\GFP-EGFP.T:Zzzz\nls1 under the control of Scer\GAL4GMR.PF.

      (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 (2)
      Reported As
      Symbol Synonym
      Hsap\HTT152Q.Ex1.Scer\UAS.T:Avic\GFP-EGFP
      Hsap\HTT152Q.Ex1.UAS.EGFP
      Name Synonyms
      Secondary FlyBase IDs
        References (4)