C16770641T
ACC>ATC
T178I | Mhc-PA; T178I | Mhc-PB; T178I | Mhc-PC; T178I | Mhc-PD; T178I | Mhc-PE; T178I | Mhc-PF; T178I | Mhc-PG; T178I | Mhc-PH; T178I | Mhc-PI; T178I | Mhc-PK; T178I | Mhc-PL; T178I | Mhc-PM; T178I | Mhc-PN; T178I | Mhc-PO; T178I | Mhc-PP; T178I | Mhc-PQ; T178I | Mhc-PR; T178I | Mhc-PS; T178I | Mhc-PT; T178I | Mhc-PU; T178I | Mhc-PV
T178I
Analogous T178I 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
sarcomere | adult stage | progressive, with Mhc10
Z disc | adult stage | progressive, with Mhc10
MhcT178I homozygosity in a Mhc10 background induces a flightless phenotype and adults typically display a wings-up phenotype; the heterozygosity condition also leads to a significant and progressive decrease in flight ability.
In the MhcT178I, Mhc10 double homozygosity condition, pupal indirect flight muscles show assembly defects with disrupted myofibril morphology (myofilament subdomains with myofibrils that are poorly aligned with each other and fraying of filaments); 2h-old adult indirect flight muscles show extreme disruption in morphology (thick filaments dispersed in myofibril remnants and reduction in regular sarcomere patterns); 2 days-old adult indirect flight muscles show continued disruption in myofibril morphology (no regular sarcomeric structures and Z-band material scattered throughout the myofibril remnants). In the MhcT178I/+, Mhc10/Mhc10 condition, the pupal and 2h-old adult indirect flight muscles show no obvious defects; however, 2 days-old adult indirect flight muscles show some disruption in myofibril morphology (myofilaments are missing from the lattice and the sarcomere structural elements are disrupted); in 7 days-old adults there is a severe muscle degeneration.