FB2025_02 , released April 17, 2025
Allele: Hsap\ATXN380Q.1.UAS.Tag:HA
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General Information
Symbol
Hsap\ATXN380Q.1.UAS.Tag:HA
Species
H. sapiens
Name
FlyBase ID
FBal0356506
Feature type
allele
Associated gene
Hsap\ATXN3
Associated Insertion(s)
Carried in Construct
P{UAS-hATXN3.1.80Q.HA}
Key Links
Transgenic product class
short_tandem_repeat_expansion
(Johnson et al., 2019)
Mutagen
Nature of the Allele
Transgenic product class
short_tandem_repeat_expansion
(Johnson et al., 2019)
Mutagen
in vitro construct
(Johnson et al., 2019)
Progenitor genotype
Carried in construct
P{UAS-hATXN3.1.80Q.HA}
Cytology
Description

UAS regulatory sequences drive expression of a cDNA that encodes full-length Hsap\ATXN3 isoform 1, which has been engineered to encode an expanded polyglutamine (polyQ) repeat of 80 residues (the polyQ repeats are encoded by CAGCAA doublet repeats, rather than a pure CAG tract, to avoid the possibility of repeat-associated non-ATG (RAN) translation and mRNA toxicity). The polyQ-reading frame is tagged at the C-terminal end with Tag:HA, while the other two sense reading frame alternatives are tagged with in-frame Tag:MYC and Tag:V5 respectively. Only blotting for the Tag:HA epitope gives a clear protein signal above background, indicating that RAN translation is unlikely to be occurring from this transgene.

(Johnson et al., 2019)
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 ( 1 )
      Disease
      Evidence
      References
      model of  Machado-Joseph disease
      CEA
      (Prifti et al., 2022, Johnson et al., 2019)
      Modifiers Based on Experimental Evidence ( 1 )
      Disease
      Interaction
      References
      ameliorates  Machado-Joseph disease
      modeled by Hsap\ATXN380Q.UbS1mut.UAS
      (Prifti et al., 2022)
      Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
       
      Disease-implicated variant(s)
       
      This allele represents a human variant implicated in disease.
      (Johnson et al., 2019)
      ATXN3:p.Gln296[80]
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      ATXN3:p.Gln296[80Gln]
      ATXN3, (CAG)n REPEAT EXPANSION
      Associated human disease model(s)
      External database links
      ClinVar: ATXN3_209995
      Comments concerning this variant
      Phenotypic Data
      Interactions
      Show genetic interaction network for Enhancers & Suppressors
      Phenotypic Class
      Phenotype Manifest In
      Additional Comments
      Genetic Interactions
      Statement
      Reference
      Xenogenetic Interactions
      Statement
      Reference
      Complementation and Rescue Data
      Images (0)
      Mutant
      Wild-type
      Stocks (0)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (1)
      Reported As
      Symbol Synonym
      Hsap\ATXN380Q.1.UAS.Tag:HA
      Name Synonyms
      Secondary FlyBase IDs
        References (3)