In-frame deletion that removes sequence encoding amino acids 465-471 (this deletion is within the predicted coiled-coil domain, but was picked as a site where the COILS score dipped, suggesting a loss of coiled-coil structure).
In c(3)GccΔ3 females, pachytene oocytes never fully assemble full-length synaptonemal complex (Corolla immunostaining).
In c(3)GccΔ3 homozygous females, oocytes show a progressive decrease in X and 3rd homologous chromosome pairing during pachytene despite of no changes in DNA double strand break formation during early pachytene, disrupted centromere clustering despite of relatively normal centromere pairing, as compared to heterozygous and wild-type controls. These are associated with abnormal chromosomal recombination, compared to heterozygous and wild-type controls: severe reduction in X chromosome recombination, and abnormal 3rd chromosome recombination (decreased distal euchromatin recombination and severely increased proximal euchromatin recombination). In addition, there is a small frequency of X and 4th chromosome non-disjunction events, which are virtually not observed in heterozygous and wild-type controls.
c(3)GccΔ3 has abnormal meiotic cell cycle | recessive | female phenotype, enhanceable by vilya826