FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\myoE500K.UAS
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General Information
Symbol
Dmel\myoE500K.UAS
Species
D. melanogaster
Name
FlyBase ID
FBal0370028
Feature type
allele
Associated gene
Dmel\myo
Associated Insertion(s)
Carried in Construct
PBac{UAS-myo.E500K}
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Ravenscroft et al., 2021)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Ravenscroft et al., 2021)
Mutagen
in vitro construct
(Ravenscroft et al., 2021)
Progenitor genotype
Carried in construct
PBac{UAS-myo.E500K}
Cytology
Description

UASt regulatory sequences drive expression of a cDNA that encodes the myo-PA isoform. A E500K amino acid substitution has been introduced into the coding sequence; this change is equivalent to a p.E306K change in the orthologous human GDF11 gene, a variant identified in a patient presenting with complex complex phenotypes.

(Ravenscroft et al., 2021)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
myo
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
4:692,290..692,290 [-]
Nucleotide change:

G692290A

Amino acid change:

E500K | myo-PA; E500K | myo-PC; E500K | myo-PD

Reported amino acid change:

E500K

Comment:

Analogous mutation in human GDF11 implicated in vertebral hypersegmentation and orofacial anomalies; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

(Ravenscroft et al., 2021)
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 )
      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.
      (Ravenscroft et al., 2021)
      GDF11:p.Glu306Lys
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: 1342144
      Comments concerning this variant
      Phenotypic 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 (1)
      Reported As
      Symbol Synonym
      myoE500K.UAS
      Name Synonyms
      Secondary FlyBase IDs
        References (2)