FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Hsap\ATXN10rAUUCU.65.UAS
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General Information
Symbol
Hsap\ATXN10rAUUCU.65.UAS
Species
H. sapiens
Name
FlyBase ID
FBal0277311
Feature type
allele
Associated gene
Hsap\ATXN10
Associated Insertion(s)
Carried in Construct
P{UAS-rAUUCU.65}
Key Links
Transgenic product class
Mutagen
Nature of the Allele
Transgenic product class
Mutagen
in vitro construct
(van Eyk et al., 2011)
Progenitor genotype
Carried in construct
P{UAS-rAUUCU.65}
Cytology
Description

UAS regulatory sequences drive expression of a DNA fragment carrying the region in intron 9 of Hsap\ATXN10 containing the AUUCU repeat, plus 141 bp of surrounding sequence where a termination codon is inserted immediately upstream of the Hsap\ATXN10 sequences having the effect of moving the 65 interrupted repeats of the penta-nucleotide AUUCU into the 3'-untranslated region of the transcript. The sequence of the repeat tract in this construct is (ATTCT)[[20]] ACTCT (ATTCT)[[23]] ATTCC (ATTCT)[[15]] ATTTT (ATTCT)[[7]].

(van Eyk et al., 2011)
Allele components
Component
Use(s)
Regulatory region(s)
UAS
Encoded product / tool
Hsap\ATXN10
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
      DOES NOT model  neurodegenerative disease
      CEA
      (van Eyk et al., 2011)
      model of  neurodegenerative disease
      CEA with sggUAS.cBa
      (van Eyk et al., 2011)
      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.
      (van Eyk et al., 2011)

      This (ATTCT)n REPEAT EXPANSION is much smaller than pathogenic variants observed in human (between normal and intermediate ranges).

      ATXN10:n.intron9[65AUUCU]
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      ATXN10:n.intron9[65ATTCT]
      ATXN10, (ATTCT)n REPEAT EXPANSION
      Associated human disease model(s)
      External database links
      ClinVar: ATXN10_999
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Expression of Hsap\ATXN10rAUUCU.65.Scer\UAS under the control of Scer\GAL4GMR.PFa does not cause a visible disruption to the external patterning of the eye.

      (van Eyk et al., 2011)
      External Data
      Interactions
      Show genetic interaction network for Enhancers & Suppressors
      Phenotypic Class
      Enhancer of
      Phenotype Manifest In
      Enhancer of
      Additional Comments
      Genetic Interactions
      Statement
      Reference
      Xenogenetic Interactions
      Statement
      Reference

      Co-expression of Mef2GD5039 with Hsap\ATXN10rAUUCU.65.Scer\UAS under the control of Scer\GAL4GMR.PFa does not disrupt eye patterning.

      Co-expression of mod(mdg4)GD16547 with Hsap\ATXN10rAUUCU.65.Scer\UAS under the control of Scer\GAL4GMR.PFa does not disrupt eye patterning.

      Overexpression of sggScer\UAS.cBa under the control of Scer\GAL4GMR.PFa and in the presence of Hsap\ATXN10rAUUCU.65.Scer\UAS results in a decrease in the amount of pigmentation in the eye compared with overexpression of sggScer\UAS.cBa alone. There is a marked increase in the degree of roughness of the surface of the eye in flies co-expressing sggScer\UAS.cBa and Hsap\ATXN10rAUUCU.65.Scer\UAS.

      (van Eyk et al., 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\ATXN10rAUUCU.65.Scer\UAS
      Hsap\ATXN10rAUUCU.65.UAS
      Name Synonyms
      Secondary FlyBase IDs
        References (2)