FB2025_01 , released February 20, 2025
Allele: Hsap\ARQ65.UAS
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General Information
Symbol
Hsap\ARQ65.UAS
Species
H. sapiens
Name
FlyBase ID
FBal0276813
Feature type
allele
Associated gene
Hsap\AR
Associated Insertion(s)
Carried in Construct
P{UAS-AR.Q65}
Key Links
Transgenic product class
trinucleotide_repeat_expansion
(Jochum et al., 2012)
Mutagen
Nature of the Allele
Transgenic product class
trinucleotide_repeat_expansion
(Jochum et al., 2012)
Mutagen
in vitro construct
(Jochum et al., 2012)
Progenitor genotype
Carried in construct
P{UAS-AR.Q65}
Cytology
Description

UASt regulatory sequences drive expression of a mutant form of Hsap\AR with an expanded poly-Q stretch of 65.

(Jochum et al., 2012)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
Hsap\AR
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  Kennedy's disease
      CEA
      (Jochum et al., 2012)
      Modifiers Based on Experimental Evidence ( 0 )
      Disease
      Interaction
      References
      Comments on Models/Modifiers Based on Experimental Evidence ( 1 )
       

      Model of Kennedy's disease requires the presence of the androgen receptor ligand dihydrotestosterone and is ameliorated by melatonin.

      (Jochum et al., 2012)
      Disease-implicated variant(s)
       
      This allele represents a human variant implicated in disease.
      (Jochum et al., 2012)
      AR:p.Gln58[65]
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      AR:p.Gln58[65Gln]
      AR, (CAG)n REPEAT EXPANSION
      Associated human disease model(s)
      External database links
      ClinVar: AR_417977
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      A significant reduction of locomotion is observed in the presence of dihydrotestosterone (DHT) in larvae expressing Hsap\ARQ65.Scer\UAS under the control of Scer\GAL4VGlut-OK371.

      Larvae expressing Hsap\ARQ65.Scer\UAS under the control of Scer\GAL4VGlut-OK371 show neuromuscular junction abnormalities in the presence of DHT characterised by the noticeably reduced branching of the axons.

      (Jochum et al., 2012)
      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 (2)
      Reported As
      Symbol Synonym
      Hsap\ARQ65.Scer\UAS
      Hsap\ARQ65.UAS
      Name Synonyms
      Secondary FlyBase IDs
        References (2)