Dnah10 deficiency results in typical MMAF phenotypes and infertility in male mice
(A) Fertility test of male mice at 2–5 months of age after mating with Dnah10+/− females (∗∗∗p < 0.001).
(B) The size (left) and weight (right) of testes were comparable between Dnah10−/− and Dnah10+/− male mice at 2 months of age. n.s., not significant.
(C) The sperm concentration of Dnah10−/− male mice was significantly lower than that of Dnah10+/− male mice (∗∗∗p < 0.001).
(D) Percentages of motile sperms in Dnah10−/− male mice and Dnah10+/− male mice at 2 months of age (∗∗∗p < 0.001).
(E) H&E staining of the spermatozoa obtained from mouse cauda epididymis. When compared with the normal morphology of spermatozoa obtained from Dnah10+/− male mice, Dnah10−/−male mouse spermatozoa exhibited aberrant flagellar morphologies, which were consistent with the clinical phenotypes observed in men harboring bi-allelic DNAH10 variants.
(F) Cross-sectional ultrastructure of cauda epididymal spermatozoa obtained from Dnah10−/− male mice and Dnah10+/− male mice at 2 months of age via TEM. Compared with the normal ultrastructure in Dnah10+/− male mice, cross-sections of the midpiece and principal piece of the sperm flagella in Dnah10−/− male mice revealed disorganization of the axoneme, mitochondrial sheaths, and outer dense fibers. Scale bars, 100 nm.