FB2025_01 , released February 20, 2025
Allele: Hsap\ATXN3CAG92.UAS.Tag:HA,Tag:MYC,Tag:polyHis
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General Information
Symbol
Hsap\ATXN3CAG92.UAS.Tag:HA,Tag:MYC,Tag:polyHis
Species
H. sapiens
Name
FlyBase ID
FBal0270140
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Key Links
Nature of the Allele
Progenitor genotype
Carried in construct
Cytology
Description

UASt drives expression of a full-length Hsap\ATXN3 cDNA bearing an expanded 92x CAG polyglutamine codon repeat, and C-terminally tagged with Tag:MYC in the main reading frame, Tag:HA in the -1 reading frame, and Tag:polyHis in the +1 reading frame. Expression from this transgene leads to production of both mainframe and -1 frameshifted, but not +1 frameshifted, proteins.

Allele components
Component
Use(s)
Encoded product / tool
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
Variant Molecular Consequences
Associated Sequence Data
DNA sequence
Protein sequence
 
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.
ATXN3:p.Gln296[92]
Variants Synonym(s)
ATXN3:p.Gln296[92Gln]
ATXN3, (CAG)n REPEAT EXPANSION
Associated human disease model(s)
External database links
Comments concerning this variant
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

When expressed with Scer\GAL4GMR.PU, two of three Hsap\ATXN3CAG92.Scer\UAS.T:Ivir\HA1,T:Hsap\MYC,T:Zzzz\His6 lines have an overt eye phenotype from eclosion, while the thrid line develops the same phenotype 5 days post-eclosion. The phenotype is characterized by visible disruption of both morphology ('rough eye') and pigmentation, and it worsens over time: at 20 days post-eclosion, the pigmentation is completely absent and morphology is severely disrupted. Tangential sections reveal a marked degeneration of cells in the retina and severely disrupted morphology. Transversal sections reveal degeneration of the eye, signified by thinning of the retina.

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
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\ATXN3CAG92.Scer\UAS.T:Ivir\HA1,T:Hsap\MYC,T:Zzzz\His6
Hsap\ATXN3CAG92.UAS.Tag:HA,Tag:MYC,Tag:polyHis
Hsap\ATXN3exp.CAG92.Scer\UAS.T:Hsap\MYC,T:Ivir\HA1,T:Zzzz\His6
Name Synonyms
Secondary FlyBase IDs
    References (2)