In-frame deletion that removes sequence encoding amino acids 340-552 (this deletion is within the predicted coiled-coil domain).
In c(3)GccΔ1 homozygous females, the synaptonemal complex (Corolla immunostaining) shows normal overall appearance during early pachytene, but starts showing discontinuities during early-mid pachytene and starts showing a decrease in total length during mid-pachytene, as compared to controls; the synaptonemal complex has decreased width but retains the tripartite arrangement, as compared to controls.
In c(3)GccΔ1 females, oocytes show significantly decreased DNA double strand break formation during early pachytene, and progressive decrease in X, 2nd and 3rd homologous chromosome pairing during pachytene, despite of relatively normal centromere pairing and clustering, as compared to controls. These are associated with abnormal chromosomal recombination, compared to controls: severe reduction in X chromosome recombination, and abnormal 3rd chromosome recombination (decreased distal euchromatin recombination and severely increased proximal euchromatin recombination). However, there are no changes in the frequency of X or 4th chromosome non-disjunction events, as compared to controls.
