FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\Act88FA296S
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General Information
Symbol
Dmel\Act88FA296S
Species
D. melanogaster
Name
FlyBase ID
FBal0335753
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Key Links
Genomic Maps

Nature of the Allele
Progenitor genotype
Carried in construct
Cytology
Description

Genomic fragment containing Act88F carrying an amino acid substitution equivalent to a variant that has been reported to be associated with hypertrophic cardiomyopathy when mutated in the human ACTC1 ortholog. (FlyBase curator comment: the mutation in the Act88F gene is given as A295S in FBrf0236636, however analysis of the release 6.32 annotated gene model indicates the change to be A296S).

Allele components
Component
Use(s)
Encoded product / tool
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
Nucleotide change:

G15441501T

Amino acid change:

A296S | Act88F-PA

Reported amino acid change:

A295S

Comment:

Analogous A297S mutation in human ACTC1 implicated in cardiomyopathy, familial hypertrophic 11; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

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 ( 0 )
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.
ACTC1:p.Ala297Ser
Variants Synonym(s)
ACTC1:p.Ala295Ser
Associated human disease model(s)
External database links
Comments concerning this variant
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

Act88F6 heterozygotes bearing one copy of Act88FA295S do not present obvious defects in average body weight nor in the development, morphology or thin filament length in indirect flight muscle, but present the following defects in flight performance, as compared to controls: a significant decrease in flight index assessed by standard flight assays; significant decreases in overall and angular velocity and in centripetal, but not overall, acceleration in digital inline holography experiments. Act88F6 homozygotes bearing two copies of Act88FA295S present a fully penetrant flightless phenotype, which is associated with hyper-contracted and torn dorsal longitudinal indirect flight muscles, but not with significant changes in thin filament length, as compared to controls.

External Data
Interactions
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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 (2)
Reported As
Symbol Synonym
Act88FA296S
Name Synonyms
Secondary FlyBase IDs
    References (2)