FB2025_01 , released February 20, 2025
Allele: Hsap\ATXN232Q.UAS
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General Information
Symbol
Hsap\ATXN232Q.UAS
Species
H. sapiens
Name
FlyBase ID
FBal0298969
Feature type
allele
Associated gene
Hsap\ATXN2
Associated Insertion(s)
Carried in Construct
P{UAS-ATXN2.32Q}
Also Known As
UAS-ATXN2-32Q
Key Links
Transgenic product class
trinucleotide_repeat_expansion
(Kim et al., 2014)
Mutagen
Nature of the Allele
Transgenic product class
trinucleotide_repeat_expansion
(Kim et al., 2014)
Mutagen
in vitro construct
(Kim et al., 2014)
Progenitor genotype
Carried in construct
P{UAS-ATXN2.32Q}
Cytology
Description

UAS regulatory sequences drive expression of Hsap\ATXN2 with an expanded polyQ repeat (32Q).

(Kim et al., 2014)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
Hsap\ATXN2
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  amyotrophic lateral sclerosis type 10
      CEC with Hsap\TARDBPUAS.cUa
      (Lee et al., 2020)
      Modifiers Based on Experimental Evidence ( 1 )
      Disease
      Interaction
      References
      exacerbates  amyotrophic lateral sclerosis
      modeled by Hsap\TARDBPUAS.cEa
      (Kim et al., 2014)
      model of  amyotrophic lateral sclerosis
      is exacerbated by pAbpUAS.cSa
      (Kim et al., 2014)
      Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
       
      Disease-implicated variant(s)
       
      This allele represents a human variant implicated in disease.
      (Kim et al., 2014)
      ATXN2:p.Gln166[32]
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      ATXN2:p.Gln166[32Gln]
      ATXN2, (CAG)n REPEAT EXPANSION, INTERMEDIATE
      Associated human disease model(s)
      External database links
      ClinVar: ATXN2_8114
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference
      External Data
      Interactions
      Show genetic interaction network for Enhancers & Suppressors
      Phenotypic Class
      Phenotype Manifest In
      Enhancer of
      Statement
      Reference

      Hsap\ATXN232Q.UAS, Scer\GAL4GMR.PU is an enhancer of eye phenotype of Hsap\TARDBPUAS.cEa, Scer\GAL4GMR.PU

      (Kim et al., 2014)
      Other
      Additional Comments
      Genetic Interactions
      Statement
      Reference
      Xenogenetic Interactions
      Statement
      Reference

      he reduction in lifespan induced by the expression of Hsap\TARDBPScer\UAS.cEa (under the control of Scer\GAL4elav.PLu) and climbing defects (under the control of Scer\GAL4elav.Switch.PO and raised with RU486) are also not enhanced.

      Co-expression of pAbpScer\UAS.cSa and Hsap\ATXN232Q.ΔPAM2.Scer\UAS.T:Hsap\MYC under the control of Scer\GAL4GMR.PU does not induce retinal degeneration.

      (Kim et al., 2014)
      Complementation and Rescue Data
      Comments
      Images (0)
      Mutant
      Wild-type
      Stocks (1)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (2)
      Reported As
      Symbol Synonym
      Hsap\ATXN232Q.Scer\UAS
      Hsap\ATXN232Q.UAS
      Name Synonyms
      Secondary FlyBase IDs
        References (4)