FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Hsap\FMR1S500A.UAS.Tag:MYC
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General Information
Symbol
Hsap\FMR1S500A.UAS.Tag:MYC
Species
H. sapiens
Name
FlyBase ID
FBal0267402
Feature type
allele
Associated gene
Hsap\FMR1
Associated Insertion(s)
Carried in Construct
P{UAS-FMR1.S500A.MYC}
Key Links
Transgenic product class
missense_variant
(Coffee et al., 2012)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Coffee et al., 2012)
Mutagen
in vitro construct
(Coffee et al., 2012)
Progenitor genotype
Carried in construct
P{UAS-FMR1.S500A.MYC}
Cytology
Description

UAS regulatory sequences drive expression of a mutant form of Hsap\FMR1 in which the serine at residue 500 has been replaced by an alanine. The construct is tagged with Tag:MYC.

(Coffee et al., 2012)
Allele components
Component
Use(s)
Regulatory region(s)
UAS
Encoded product / tool
Hsap\FMR1
Tagged with
Tag:MYC
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  fragile X syndrome
      CEA with Fmr1Δ50M
      (Coffee et al., 2012)
      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
      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

      Expression of Hsap\FMR1S500A.Scer\UAS.T:Hsap\MYC under the control of Scer\GAL4elav.PU is unable to rescue the neuromuscular junction synapse architecture defects seen in Fmr1Δ50M mutant third instar larvae. The increase in Futsch-positive loops is also not rescued.

      Expressing Hsap\FMR1S500A.Scer\UAS.T:Hsap\MYC under the control of Scer\GAL4elav.PU fails to rescue the expanded terminals and supernumerary synaptic boutons seen in the small ventrolateral neurons of Fmr1Δ50M mutant adults.

      Expression of Hsap\FMR1S500A.Scer\UAS.T:Hsap\MYC under the control of Scer\GAL4ey-OK107 fails to rescue the decreases in olfactory learning seen in Fmr1Δ50M mutants.

      (Coffee et al., 2012)
      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\FMR1S500A.Scer\UAS.T:Hsap\MYC
      Hsap\FMR1S500A.UAS.Tag:MYC
      Name Synonyms
      Secondary FlyBase IDs
        References (1)