UAS regulatory sequences drive expression of Act57B carrying an amino acid substitution equivalent to a M307L change in the orthologous human ACTC1 gene, a variant associated with hypertrophic cardiomyopathy. (FlyBase curator comment: the mutation in the human ACTC1 gene is given as M305L in FBrf0246480, M307L is the change relative to the UniProtKB:P68032 sequence. In addition, the mutation in the Act57B gene is given as M304L in FBrf0246480, however analysis of the release 6.35 annotated gene model indicates the change to be M306L).
A20945719C
M306L | Act57B-PA
Analogous M307L mutation in human ACTC1 implicated in hypertrophic cardiomyopathy 11; mutation carried on in vitro construct.
Expression of Act57BM306L.UAS under the control of Scer\GAL44XHand, Scer\GAL4Hand.PU or Scer\GAL4tin.CΔ4 leads to hyper-dynamic contractile properties and it impairs relaxation and the ability to reestablish resting diastolic volumes in fly hearth compared to controls.
Expression of Act57BM306L.UAS under the control of Scer\GAL4Act88F.PB leads to loss of flight and damaged dorsal medial indirect flight muscle fibers when compared to controls raised at 29[o] degrees.
Act57BM306L.UAS, Scer\GAL4Act88F.PB has flightless | heat sensitive phenotype, non-suppressible by Mhc10
Act57BM306L.UAS, Scer\GAL4Act88F.PB has dorsal longitudinal indirect flight muscle cell | heat sensitive phenotype, suppressible by Mhc10