Imprecise excision of the progenitor insertion, resulting in a 6127bp deletion which removes much of the C1GalTA coding region, including the transmembrane domain and motifs predicted to be essential for its catalytic activity. 1584bp of the original insertion also remains.
lethal (with C1GalTA30.1)
myofibril | larval stage (with C1GalTAEY13370)
sarcomere | larval stage (with C1GalTAEY13370)
Stage 12 C1GalTA2.1 embryos exhibit significantly fewer macrophages within the germ band and significantly more macrophages on the yolk, as compared to controls; the sum of the macrophages in the yolk and germband is the same in the controls.
C1GalTAEY13370/C1GalTA2.1 mutant larvae exhibit partial loss of the basement membrane, along with mislocalized neuromuscular junction boutons at the muscle 6/7 boundary, but no difference in the overall number of NMJ boutons, as compared to controls.
NMJs in C1GalTAEY13370/C1GalTA2.1 mutant larvae exhibit increased numbers of endocytic vesicles, increased thickness of subsynaptic reticulum per bouton area, decreased subsynaptic reticulum density, and decreased postsynaptic density length, but no significant difference in the number of synaptic vesicles, postsynaptic densities per bouton, or postsynaptic depth, as compared to wild type. Muscle fibers in C1GalTAEY13370/C1GalTA2.1 mutant larvae exhibit ectopic vacuole-like structures around the nucleus in myofibrils, and defective sarcomere structure, duplicate basement membranes, and increased basement membrane thickness, as compared to controls.
Homozygous larvae have a greatly elongated ventral nerve cord (VNC) compared to controls, and the larval brain hemispheres are distorted. VNC condensation does occur in the homozygous embryos, but fails to reach the same extent as that seen in wild type, as the VNC is obviously elongated in first instar larvae. At each larval instar, the VNC of mutant animals is elongated compared to controls, and it continues to increase in length throughout larval development in the mutants. The elongated VNC of the mutant larvae is noticeably thinner than that of wild type, and is also more fragile when dissected.
C1GalTA[+]/C1GalTA2.1, GlcAT-PSK6 has muscle cell of abdominal 3 ventral longitudinal muscle 3 phenotype
C1GalTA[+]/C1GalTA2.1, GlcAT-PSK6 has muscle cell of abdominal 3 ventral longitudinal muscle 4 phenotype
C1GalTA[+]/C1GalTA2.1, GlcAT-PSK6 has basement membrane | larval stage phenotype
The muscles 6 and 7 at abdominal segment 3 of GlcAT-PSK6, C1GalTA2.1 double heterozygotes are frequently in close contact, covered with a continuous single basement membrane and/or show loss of basement membrane (assessed by Ndg protein levels), as compared to controls.
C1GalTA2.1/C1GalTAEY13370 is rescued by C1GalTAUAS.cFa
C1GalTA2.1 is rescued by C1GalTA+tLa
Expression of C1GalTAScer\UAS.cFa under the control of Scer\GAL4Act5C.PU rescues the basement membrane loss of C1GalTAEY13370/C1GalTA2.1 mutants.
Separable from: a secondary lethal mutation that results in embryonic lethality.