FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\Act88FG268D
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General Information
Symbol
Dmel\Act88FG268D
Species
D. melanogaster
Name
FlyBase ID
FBal0062243
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Key Links
Genomic Maps

Nature of the Allele
Progenitor genotype
Cytology
Description

Amino acid replacement: G268D. Nucleotide substitution: G3558A.

Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
Nucleotide change:

G15441421A

Reported nucleotide change:

G3558A

Amino acid change:

G269D | Act88F-PA

Reported amino acid change:

G268D

Comment:

Analogous mutation in human ACTA1 implicated in nemaline myopathy 3.

Variant Molecular Consequences
Associated Sequence Data
DNA sequence
Protein sequence
 
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
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.
ACTA1:p.Gly270Asp
Variants Synonym(s)
ACTA1:p.Gly268Asp
Associated human disease model(s)
Comments concerning this variant
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

The dorsal longitudinal muscles (DLMs) of homozygous flies are not parallel, but appear contorted. A mesh of F-acting aggregates is seen in the DLMs and no sarcomere organisation is seen.

Ultrastructural analysis shows that indirect flight muscles of homozygous flies lack a filament lattice and lack sarcomere structure; thick, but not thin filaments are visible, and irregular electron-dense structures (Z-bodies) similar in appearance to Z-discs are seen as bands scattered among the thick filaments.

Ultrastructural analysis shows that indirect flight muscles of heterozygous flies have poor myofibrillar structure and filament bundles appear to cross from one array to the next.

The indirect flight muscles of homozygous animals have wiggly fibres before 78 hours after puparium formation (APF). After 78 hours APF, wiggly and detached fibres are seen. At eclosion, a partial hypercontraction phenotype (bunched fibres) is seen and flies more than 2 days old show a hypercontraction phenotype of the fibres.

Heterozygotes rarely exhibit free myofibril fibres and if present they are cut, fragmented, torn and gapped. Indirect flight muscle fibres are wavy in homozygotes and normal in heterozygotes.

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
Comments
Comments

Two mutants isolated.

External Crossreferences and Linkouts ( 0 )
Synonyms and Secondary IDs (2)
Reported As
Symbol Synonym
Name Synonyms
Secondary FlyBase IDs
    References (6)