FB2024_03 , released June 25, 2024
Allele: Hsap\ATN1N917.65Q.UAS
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General Information
Symbol
Hsap\ATN1N917.65Q.UAS
Species
H. sapiens
Name
FlyBase ID
FBal0196231
Feature type
allele
Associated gene
Hsap\ATN1
Associated Insertion(s)
Carried in Construct
P{UAS-ATN1.N917.65Q}
Key Links
Transgenic product class
inframe_deletion
(Charroux et al., 2006)
trinucleotide_repeat_expansion
(Charroux et al., 2006)
Mutagen
Nature of the Allele
Transgenic product class
inframe_deletion
(Charroux et al., 2006)
trinucleotide_repeat_expansion
(Charroux et al., 2006)
Mutagen
in vitro construct
(Charroux et al., 2006)
Progenitor genotype
Carried in construct
P{UAS-ATN1.N917.65Q}
Cytology
Description

UASt regulatory sequences drive expression of the first 917 amino acids of Hsap\ATN1 plus a 65 polyglutamine repeat.

(Charroux et al., 2006)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
Hsap\ATN1
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  dentatorubral-pallidoluysian atrophy
      CEA
      (Nisoli et al., 2010)
      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.
      (Charroux et al., 2006)
      ATN1:p.Gln484[65]
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      ATN1:p.Gln488[65]
      ATN1:p.Gln484[65Gln]
      ATN1, (CAG)n REPEAT EXPANSION
      Associated human disease model(s)
      External database links
      ClinVar: ATN1_590267
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Expression of Hsap\ATN1N917.65Q.Scer\UAS under the control of Scer\GAL4GMR.PU results in progressive eye depigmentation and retinal collapse.

      Expression of Hsap\ATN1N917.65Q.Scer\UAS in the glia (under the control of Scer\GAL4Eaat1.PR), or in the neurons (under the control of Scer\GAL4elav.PU), reduces animal viability.

      (Nisoli et al., 2010)

      The eyes of 4-day-old flies expressing Hsap\ATN1N917.65Q.Scer\UAS under the control of Scer\GAL4GMR.PF appear relatively normal, but after 15 days, eyes of this genotype show progressive pigment loss.

      Expression of Hsap\ATN1N917.65Q.Scer\UAS under the control of either Scer\GAL4GMR.PF (leaky activity in wing tissue) or Scer\GAL4Bx-MS1096 induces ectopic wing vein differentiation.

      (Charroux 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

      The ectopic wing vein phenotype seen when Hsap\ATN1N917.65Q.Scer\UAS is expressed under the control of Scer\GAL4GMR.PF is enhanced in styΔ5, rlSem and Gug1207D6 heterozygotes.

      The ectopic wing vein phenotype of Scer\GAL4GMR.PF>Hsap\ATN1N917.65Q.Scer\UAS flies is suppressed when either EgfrDN.Scer\UAS or GugUbi-p63E.T:Avic\GFP is coexpressed.

      (Charroux 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 (2)
      Reported As
      Symbol Synonym
      Hsap\ATN1N917.65Q.Scer\UAS
      Hsap\ATN1N917.65Q.UAS
      Name Synonyms
      Secondary FlyBase IDs
        References (3)