C16777288T
CGT>TGT
R672C | Mhc-PA; R672C | Mhc-PB; R672C | Mhc-PC; R672C | Mhc-PD; R672C | Mhc-PE; R672C | Mhc-PF; R672C | Mhc-PG; R672C | Mhc-PH; R672C | Mhc-PI; R672C | Mhc-PK; R672C | Mhc-PL; R672C | Mhc-PM; R672C | Mhc-PN; R672C | Mhc-PO; R672C | Mhc-PP; R672C | Mhc-PQ; R672C | Mhc-PR; R672C | Mhc-PS; R672C | Mhc-PT; R672C | Mhc-PU; R672C | Mhc-PV
R672C
Analogous R672C mutation in human MYH3 implicated in arthrogryposis, distal, type 2A; mutation carried on in vitro construct.
myotube | adult stage | progressive, with Mhc1, Scer\GAL4Mef2.PR
sarcomere | adult stage | progressive, with Mhc1, Scer\GAL4Mef2.PR
Z disc | adult stage | progressive, with Mhc1, Scer\GAL4Mef2.PR
Dorsal longitudinal muscles of Mhc1/+ individuals expressing MhcR672C.UAS under the control of Scer\GAL4Mef2.PR show progressive defects: severe fiber branching and splitting defects, smaller sarcomeres (shortening of the inter-Z disc distance and narrower Z discs) and fragmented Z discs (Kettin), compared to controls. The pupal stage of these individuals takes longer than in controls. Adults show a mild reduction in climbing ability, as compared to controls.