FB2024_03 , released June 25, 2024
Allele: Hsap\PABPN1Δala.UAS
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General Information
Symbol
Hsap\PABPN1Δala.UAS
Species
H. sapiens
Name
FlyBase ID
FBal0196236
Feature type
allele
Associated gene
Hsap\PABPN1
Associated Insertion(s)
Carried in Construct
P{UAS-PABPN1.Δala}
Key Links
Transgenic product class
inframe_deletion
(Chartier et al., 2006)
Mutagen
Nature of the Allele
Transgenic product class
inframe_deletion
(Chartier et al., 2006)
Mutagen
in vitro construct
(Chartier et al., 2006)
Progenitor genotype
Carried in construct
P{UAS-PABPN1.Δala}
Cytology
Description

UAS regulatory sequences drive expression of Hsap\PABPN1 coding regions that lack the 10 alanine residues which usually succeed the initial methionine.

(Chartier et al., 2006)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
Hsap\PABPN1
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  oculopharyngeal muscular dystrophy
      CEA
      (Chartier et al., 2006)
      Modifiers Based on Experimental Evidence ( 0 )
      Disease
      Interaction
      References
      Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
       
      Disease-implicated variant(s)
       
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Expression of Hsap\PABPN1Δala.Scer\UAS, under the control of Scer\GAL4Mhc.PW can lead to two wing position phenotypes: wings up or wings down. The penetrance of this phenotype is much greater when flies are raised at 25oC, compared to at 18oC.

      Scer\GAL4Mhc.PW>Hsap\PABPN1Δala.Scer\UAS indirect flight muscles show thin, disorganized myofibrils by day 6. These muscles do not show very dense nuclear inclusions, although uncondensed aggregates can be visualized in a low number of nuclei. The locomotor muscles of animals with this genotype are weakly affected and do not show nuclear inclusions.

      (Chartier 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
      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\PABPN1Δala.Scer\UAS
      Hsap\PABPN1Δala.UAS
      Name Synonyms
      Secondary FlyBase IDs
        References (1)