Encodes the entire 23.8kb Mhc gene, including approximately 450bp of upstream regulatory sequence. A F435I amino acid substitution has been introduced into the embryonic isoform. This change is equivalent to a F437I change in the orthologous human MYH3 gene, a variant associated with distal arthrogryposis type 1.
T16774756A
F435I | Mhc-PA; F435I | Mhc-PB; F435I | Mhc-PC; F435I | Mhc-PD; F435I | Mhc-PE; F435I | Mhc-PF; F435I | Mhc-PG; F435I | Mhc-PH; F435I | Mhc-PI; F435I | Mhc-PK; F435I | Mhc-PL; F435I | Mhc-PM; F435I | Mhc-PN; F435I | Mhc-PO; F435I | Mhc-PP; F435I | Mhc-PQ; F435I | Mhc-PR; F435I | Mhc-PS; F435I | Mhc-PT; F435I | Mhc-PU; F435I | Mhc-PV
Analogous F437I mutation in human MYH3 implicated in distal arthrogryposis type 1; mutation carried on in vitro construct.
myofilament | adult stage, with Mhc10
myofilament | pupal stage, with Mhc10
myotube | adult stage, with Mhc10
myotube | pupal stage, with Mhc10
sarcomere | adult stage, with Mhc10
sarcomere | pupal stage, with Mhc10
Indirect flight muscles of MhcDA1/MhcDA1, Mhc10/Mhc10 organisms fail to assemble properly and worsen with age: In late-stage pupae, myofibrils are distorted with some disruptions of thick and thin filament packing, M- lines are poorly formed and Z-lines are diffuse. In 2h-old adults, more severe filament irregularities are present, with gaps between thick and thin filaments, aberrant filament alignment. In 2d old adults, adjacent myofibrils tend to merge.
Indirect flight muscles of 2h and 2d old MhcDA1/+, Mhc10/+ show essentially normal myofibrils with occasional filaments missing from myofibrils that display similar to control M- and Z-lines. These muscles show decreased power output, slower kinetics and enhanced stiffness compared to controls.