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.
myofibril | adult stage | progressive, with Mhc10
myofibril | pupal stage, with Mhc10
myofilament | adult stage | progressive, with Mhc10
myofilament | pupal stage, with Mhc10
sarcomere | adult stage | progressive, with Mhc10
sarcomere | pupal stage, with Mhc10
Z disc | adult stage | progressive, with Mhc10
Z disc | pupal stage, with Mhc10
Both MhcR672C hetero- and homo-zygosity in a Mhc10 background leads to a fully flightless phenotype; the MhcR672C homozygosity condition also typically leads to a wings-up phenotype.
In the MhcR672C, Mhc10 double homozygosity condition, pupal indirect flight muscles display severe assembly defects (abnormally shaped and sized myofibrils, and aberrantly localized Z-band material, with poor myofilament organization); 2h-old adult indirect flight muscles show extreme disruption in morphology (thick filaments dispersed in myofibril remnants and reduction in regular sarcomere patterns); these defects become more severe during adulthood. In the MhcR672C/+, Mhc10/Mhc10 condition, pupal indirect flight muscles show no obvious defects; however, 2h-old adult indirect flight muscles present myofibrils with disrupted myofilament arrays and branching sarcomeres with wavy Z- and M-line material; 2 days-old adult indirect flight muscles show disrupted myofibril morphology with scattered Z-band material, and sarcomeres are further disordered; in 7 days-old adults there is a severe muscle degeneration.