ARMC2 loss impairs cilia structure and leads to primary ciliary dyskinesia symptoms in mouse organs (opens in new tab)

In humans and mice, deficiency in ARMC2 causes Multiple Morphological Abnormalities of the Flagellum (MMAF), a condition defined by absent or aberrant sperm flagella with a disorganized axoneme. Affected men are infertile but with no other obvious signs characteristics/typical for primary cilia dyskinesia (PCD). Given the similarity between cilia and flagella axonemes we investigated a possible role of ARMC2 in cilia functioning. In Armc2-deficient mice, the length of cilia was reduced in tra...