FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Hsap\ATXN3tr.Q78.GMR.Tag:HA
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General Information
Symbol
Hsap\ATXN3tr.Q78.GMR.Tag:HA
Species
H. sapiens
Name
FlyBase ID
FBal0240953
Feature type
allele
Associated gene
Hsap\ATXN3
Associated Insertion(s)
Carried in Construct
P{GMR-hATXN3.tr-Q78}
Key Links
Transgenic product class
inframe_deletion
(Bilen et al., 2006)
trinucleotide_repeat_expansion
(Bilen et al., 2006)
Mutagen
Nature of the Allele
Transgenic product class
inframe_deletion
(Bilen et al., 2006)
trinucleotide_repeat_expansion
(Bilen et al., 2006)
Mutagen
in vitro construct
(Bilen et al., 2006)
Progenitor genotype
Carried in construct
P{GMR-hATXN3.tr-Q78}
Cytology
Description

GMR promoter sequences drive expression of truncated Hsap\ATXN3 coding sequences with a Tag:HA tag.

(Bilen et al., 2006)
Allele components
Component
Use(s)
Regulatory region(s)
GMR
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.
      (Bilen et al., 2006)
      ATXN3:p.Gln296[78]
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      ATXN3:p.Gln296[78Gln]
      ATXN3, (CAG)n REPEAT EXPANSION
      Associated human disease model(s)
      External database links
      ClinVar: ATXN3_209995
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Flies carrying Hsap\MJDtr.Q78.GMR.T:Ivir\HA1 are born with a slightly degenerate internal retinal structure.

      (Bilen et al., 2006)
      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

      Reduction of ban activity through banEP3622/Df(3L)banΔ1 or banEP3208/Df(3L)banΔ1 enhances Hsap\MJDtr.Q78.GMR.T:Ivir\HA1-induced degeneration, such that flies are now born with more neuronal loss.

      (Bilen et al., 2006)
      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\ATXN3tr.Q78.GMR.T:Ivir\HA1
      Hsap\ATXN3tr.Q78.GMR.Tag:HA
      Hsap\MJDtr.Q78.GMR.T:Ivir\HA1
      Name Synonyms
      Secondary FlyBase IDs
        References (2)