FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Hsap\ATXN3CAA.tr.Q78.UAS.Tag:HA
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General Information
Symbol
Hsap\ATXN3CAA.tr.Q78.UAS.Tag:HA
Species
H. sapiens
Name
FlyBase ID
FBal0283317
Feature type
allele
Associated gene
Hsap\ATXN3
Associated Insertion(s)
Carried in Construct
P{UAS-ATXN3.tr-Q78.CAA}
Also Known As
SCA3trQ78CAA/G
Key Links
Transgenic product class
inframe_deletion
(Li et al., 2008)
short_tandem_repeat_expansion
(Li et al., 2008)
Mutagen
Nature of the Allele
Transgenic product class
inframe_deletion
(Li et al., 2008)
short_tandem_repeat_expansion
(Li et al., 2008)
Mutagen
in vitro construct
(Li et al., 2008)
Progenitor genotype
Carried in construct
P{UAS-ATXN3.tr-Q78.CAA}
Cytology
Description

UAS regulatory sequences drive expression of a truncated form of Hsap\ATXN3 consisting of an expanded length glutamine tract (78 repeats) interrupted by CAA codons, flanked upstream by 12 amino acids and downstream by the carboxy terminal 43 amino acids of Hsap\ATXN3. The Hsap\ATXN3 protein is tagged at the N-terminal end with the Tag:HA epitope.

(Li et al., 2008)
Allele components
Component
Use(s)
Regulatory region(s)
UAS
Encoded product / tool
Hsap\ATXN3
Tagged with
Tag:HA
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 ( 0 )
      Disease
      Evidence
      References
      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.
      (Li et al., 2008)
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Flies expressing Hsap\ATXN3CAA.tr.Q78.Scer\UAS.T:Ivir\HA1 under the control of Scer\GAL4GMR.PU have degenerate eyes with reduced pigmentation.

      (Shieh and Bonini, 2011)

      Flies expressing Hsap\ATXN3CAA.tr.Q78.Scer\UAS.T:Ivir\HA1 in the developing eye under the control of Scer\GAL4GMR.PF have normal external eye morphology. Mild photoreceptor loss is seen in 25 day old flies when Hsap\ATXN3CAA.tr.Q78.Scer\UAS.T:Ivir\HA1 is expressed in differentiated photoreceptor neurons under the control of Scer\GAL4ninaE.PD; these flies have on average 6.5 photoreceptors per ommatidium, compared with the usual seven seen in controls.

      Flies expressing Hsap\ATXN3CAA.tr.Q78.Scer\UAS.T:Ivir\HA1 pan-neuronally under the control of Scer\GAL4elav-C155 show some reduction in lifespan, but it is mild compared to that seen in Hsap\ATXN3tr.Q78.Scer\UAS.T:Ivir\HA1. Flies show normal climbing behaviour at one day old, but ability to climb becomes progressively worse with age and approximately 17.9 percent of flies unable to climb by 12 days. Again, this phenotype is less severe than is seen in flies expressing Hsap\ATXN3tr.Q78.Scer\UAS.T:Ivir\HA1.

      (Li et al., 2008)
      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 Hsap\HSPA1LScer\UAS.cWa partially suppresses the wing posture and climbing defects seen when Disc\RFPCAG250.DsRed2.Scer\UAS is expressed under the control of Scer\GAL4da.PU.

      Expression of Tpr2EB7-1A partially suppresses the eye phenotype seen when Hsap\ATXN3CAA.tr.Q78.Scer\UAS.T:Ivir\HA1 is expressed under the control of Scer\GAL4GMR.PU.

      Expression of wechE546 partially suppresses the eye phenotype seen when Hsap\ATXN3CAA.tr.Q78.Scer\UAS.T:Ivir\HA1 is expressed under the control of Scer\GAL4GMR.PU.

      Expression of orb2B8-S partially suppresses the eye phenotype seen when Hsap\ATXN3CAA.tr.Q78.Scer\UAS.T:Ivir\HA1 is expressed under the control of Scer\GAL4GMR.PU.

      (Shieh and Bonini, 2011)
      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\ATXN3CAA.tr.Q78.Scer\UAS.T:Ivir\HA1
      Hsap\ATXN3CAA.tr.Q78.UAS.Tag:HA
      Name Synonyms
      Secondary FlyBase IDs
        References (4)