Single nucleotide change (G to A) within the splice donor site immediately following exon 7.
GTAAGT>GTAAAT in splice donor site immediately following exon 7
G13595003A
G?A
Mutation is in splice donor. Position of mutation on reference sequence inferred by FlyBase curator based on author statement.
The myofibrillar structure of the thoracic muscles is completely disrupted in homozygous adults; no sarcomeres are seen and only loosely organised thick filament skeins can be discerned by electron microscopy.
Muscle fibers are disorganized and Z discs show electron dense structures.
up2 flies show 60% viability.
up2 flies are flightless and jumpless. Some up2 flies show folded mesothoracic legs after recovery from etherization.
The flight musculature is mostly present in up2 flies but is grossly abnormal. Flight muscles lack cross-striations but contain disorganized thick and thin filaments and disorganized mitochondria. The anterior part of the flight muscles is more severely affected than the posterior part and the tergal depressor of the trochanters (TDTs) are generally absent or very small. At no time during pupal development is the muscle present in normal quantities or with normal morphology.
up2/+ females have a normal complement of well-organized fibres but lack 50% of the Z-band material.
Flight muscles lack cross-striations (Hotta and Benzer, 1972). 'jump' muscle absent or very small. Extracts of indirect flight muscles do not show a 54kD polypeptide that may be a Z-band component (Deak et al., 1982). Shows electron-dense structures instead of normal Z-bands (Deak et al., 1982). homozygote with abnormal wing phenotype heterozygote wing phenotype normal homozygote unable to fly heterozygote unable to fly
Protein synthesis during pupal development is abnormal in up2 flies, with a transient increase in the synthesis of Hsp68 and Hsp70 proteins at 61 hours of pupal development, and a divergence of the pattern of synthesis of other proteins at about 70 hours of pupal development.