Mobilisation of P{EP}KCNQEP2074 results in a deletion from +1071 to +3303, encompassing exons 5-7, predicted to delete S5-S6 transmembrane domains and a conserved CaM-binding site.
Eggs laid by KCNQ53B homozygous mothers fail to hatch into larvae. This embryonic lethality is only associated with homozygous KCNQ53B mothers. Homozygous KCNQ53B males have normal fertility, as they produce adult progeny when mated to wild-type females. Heterozygous embryos from homozygous KCNQ53B females and wild-type males still fail to hatch, even with a copy of the wild-type gene from the male. The lack of paternal rescue indicates that the time window when KCNQ is critical lies before the zygotic expression of the gene.
The nuclei of 1-2 hour old KCNQ53B mutant embryos are disorganised in comparison to wild-type. Some nuclei appear to be broken down into smaller fragments, whereas others have clustered abnormally, indicating that development of the mutant embryo is arrested before the cellularisation stage.