Genomic fragment containing Mhc. The coding sequence has been mutated to include a mutation analagous to the L1793P mutation in the human MYH7 gene which is associated with myosin storage myopathy.
T16786384C
CTG>CCG
L1792P | Mhc-PA; L1792P | Mhc-PB; L1792P | Mhc-PC; L1792P | Mhc-PD; L1792P | Mhc-PE; L1792P | Mhc-PF; L1792P | Mhc-PG; L1792P | Mhc-PH; L1792P | Mhc-PI; L1792P | Mhc-PK; L1792P | Mhc-PL; L1792P | Mhc-PM; L1792P | Mhc-PN; L1792P | Mhc-PO; L1792P | Mhc-PP; L1792P | Mhc-PQ; L1792P | Mhc-PR; L1792P | Mhc-PS; L1792P | Mhc-PT; L1792P | Mhc-PU; L1792P | Mhc-PV
L1791P
Analogous L1793P mutation in human MYH7 implicated in myopathy, myosin storage, autosomal dominant; mutation carried on in vitro construct.
Adults bearing two copies of MhcL1793P in an Mhc10 homozygous background present a wings-up phenotype, are virtually flightless, jump significantly shorter distances, and the indirect flight muscles exhibit severe disruptions in muscle fibers, including torn fibers that are bunched at the attachment sites, disrupted sarcomere integrity and accumulation of myosin and poly-ubiquitin aggregates, as compared to controls. At the ultrastructural level, the indirect flight muscles of pupae and young adults lack the normal round morphology, lack the regular sarcomeric arrangement and show misaligned subsections of myofibrils, with several areas showing disruption of the hexagonal arrangement of thick and thin filaments, as compared to controls; these defects are more severe in young adults compared to pupae.