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).
G15441501T
A296S | Act88F-PA
A295S
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.
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.