FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\Act88FD292V
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General Information
Symbol
Dmel\Act88FD292V
Species
D. melanogaster
Name
FlyBase ID
FBal0294738
Feature type
allele
Associated gene
Dmel\Act88F
Associated Insertion(s)
Carried in Construct
P{Act88F.D292V}
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Sevdali et al., 2013)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Sevdali et al., 2013)
Mutagen
in vitro construct
(Sevdali et al., 2013)
Progenitor genotype
Act88F+t4.0
(Sevdali et al., 2013)
Carried in construct
P{Act88F.D292V}
Cytology
Description

Amino acid replacement D292V in the Act88F coding region. The equivalent mutation in the human ACTA1 gene is associated with congenital fibre type disproportion.

(Sevdali et al., 2013)
Allele components
Component
Use(s)
Regulatory region(s)
Act88F
Encoded product / tool
Act88F
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
3R:15,441,493..15,441,493 [+]
Nucleotide change:

A15441493T

Reported nucleotide change:

A?T

Amino acid change:

D293V | Act88F-PA

Reported amino acid change:

D292V

Comment:

Analogous mutation in human ACTA1 implicated in myopathy, congenital fiber-type disproportion; mutation carried on in vitro construct.

(Sevdali et al., 2013)
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  myopathy
      CEA with Act88F6
      (Sevdali et al., 2013)
      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.
      (Sevdali et al., 2013)
      ACTA1:p.Asp294Val
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      ACTA1:p.Asp292Val
      Associated human disease model(s)
      External database links
      ClinVar: ACTA1_18289
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Flies carrying one copy of Act88FD292V in a Act88F6/+ background are completely flightless.

      Flies carrying one copy of Act88FD292V in a Act88F6/+ background show intermediate defects in myofibril organisation in the indirect flight muscles. Z-discs are less regular than normal. The defects are milder in flies carrying two copies of Act88FD292V in a homozygous Act88F6 background.

      Closely packed Z-disc stacks or "zebra bodies" are seen in the indirect flight muscles of flies carrying one copy of Act88FD292V in a Act88F6/+ background.

      (Sevdali et al., 2013)
      External Data
      Interactions
      Show genetic interaction network for Enhancers & Suppressors
      Phenotypic Class
      Suppressed by
      Statement
      Reference

      Act88F6, Act88FD292V has flightless phenotype, suppressible by up101

      (Sevdali et al., 2013)

      Act88F6, Act88FD292V has flightless phenotype, suppressible by wupAhdp-2

      (Sevdali et al., 2013)
      Phenotype Manifest In
      Additional Comments
      Genetic Interactions
      Statement
      Reference

      Flight ability is largely rescues in flies carrying one copy of Act88FD292V in a Act88F6/+ background if they are also hemizygous for either up101 or wupAhdp-2.

      (Sevdali et al., 2013)
      Xenogenetic Interactions
      Statement
      Reference
      Complementation and Rescue Data
      Comments

      Expression of Act88F+t4.0 in flies carrying one copy of Act88FD292V in a Act88F6/+ background rescues flight ability.

      (Sevdali et al., 2013)
      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
      Act88FD292V
      Name Synonyms
      Secondary FlyBase IDs
        References (2)