Mobilisation of P{EP}KCNQEP2074 results in a deletion from +110 to +2053, from exons 2-7, predicted to delete the S1-S6 transmembrane domains and a conserved CaM-binding site.
Eggs laid by KCNQ18B homozygous mothers fail to hatch into larvae. This embryonic lethality is only associated with homozygous KCNQ18B mothers. Homozygous KCNQ18B males have normal fertility, as they produce adult progeny when mated to wild-type females. Heterozygous embryos from homozygous KCNQ18B 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 embryos laid by KCNQ18B mutant females 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.
Homozygous KCNQ18B mutants develop into adulthood and display an approximately 50:50 male to female ratio. They do not exhibit any gross anatomical abnormalities; they also exhibit no obvious defects in such basic motor skills as walking and flying.