FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\Act88FR372H
Open Close
General Information
Symbol
Dmel\Act88FR372H
Species
D. melanogaster
Name
FlyBase ID
FBal0028753
Feature type
allele
Associated gene
Dmel\Act88F
Associated Insertion(s)
Carried in Construct
P{Act88F-R372H}
Key Links
Genomic Maps

Transgenic product class
dominant_negative_variant
(Drummond et al., 1991)
missense_variant
(Drummond et al., 1991)
Mutagen
Nature of the Allele
Transgenic product class
dominant_negative_variant
(Drummond et al., 1991)
missense_variant
(Drummond et al., 1991)
Mutagen
in vitro construct
(Drummond et al., 1991)
Progenitor genotype
Carried in construct
P{Act88F-R372H}
Cytology
Description

4kb genomic fragment encompassing the Act88F gene (includes approximately 1420bp of 5' flanking sequence and approximately 400bp of 3' flanking sequence). A R372H amino acid replacement has been introduced into the coding sequence.

(Drummond et al., 1991)
Allele components
Component
Use(s)
Encoded product / tool
Act88F
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
3R:15,441,794..15,441,794 [+]
Nucleotide change:

G15441794A

Amino acid change:

R373H | Act88F-PA

Reported amino acid change:

R372H

Comment:

Analogous mutation in human ACTA1 implicated in myopathy, congenital, ACTA1-related; site of nucleotide substitution in mutant inferred by FlyBase based on reported amino acid change.

(Haigh et al., 2010)
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  congenital structural myopathy
      CEA with Act88F6
      (Haigh 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.
      (Haigh et al., 2010)
      ACTA1:p.Arg374His
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Animals homozygous for Act88FR372H (in a Act88F6 background) are completely flightless. Many Act88FR372H heterozygotes fly on the first day after eclosion, but their flight ability decreases with age.

      Ultrastructural analysis shows that indirect flight muscles of homozygous flies contain many normal myofibrils, but striped filamentous assemblies ("zebra bodies") are seen alongside the myofibrils, typically occurring just below the sarcolemma.

      Ultrastructural analysis shows that indirect flight muscles of heterozygous flies have normal myofibrillar structure on the first day after eclosion, although it is less regular than in wild type. However, 7 day old heterozygotes show complete disorganisation of myofibrillar structures and Z-discs have become electron-dense bodies.

      (Haigh et al., 2010)

      Act88F6 null flies homozygous for Act88FR372H insert or carrying one mutant copy have almost normal flight ability.

      (Drummond et al., 1991)
      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
      Partially rescues

      Act88FR372H partially rescues Act88F6

      (Drummond et al., 1991)
      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
      Act88FR372H
      Name Synonyms
      Secondary FlyBase IDs
        References (5)