findings demonstrate that IFT140 is a key regulator for male fertility and normal spermiogenesis in mice. It not only plays a role in sperm flagella assembling but is also involved in critical assembly of proteins that interface between the germ cell plasma and the Sertoli cell.
This work is a strong support of a model of opsin transport where once at the base of the cilium the opsin is carried through the connecting cilium by an IFT complex that includes IFT140
We have identified a novel ENU mutant allele of Ift140 which causes a mid-gestation embryonic lethal phenotype in homozygous mutant mice.We also report the identification of a homozygous recessive mutation in IFT140 in a Jeune syndrome patient.
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