Dnah11-flox Mouse

DNAH11, or dynein axonemal heavy chain 11, encodes a protein that is part of the outer dynein arm of cilia. Dynein heavy chains are motor proteins essential for ciliary motility. The gene is involved in the assembly of respiratory cilia and sperm flagella, and thus plays a significant role in mucociliary clearance and sperm function [2,4,5,6].

Compound heterozygous variants in DNAH11 have been associated with heterotaxy and congenital heart disease, suggesting these variants might be pathogenic alterations for these conditions [1]. Also, bi-allelic variants in DNAH11 are linked to male infertility, leading to aberrant sperm flagella assembly and asthenoteratozoospermia [2]. Moreover, DNAH11 variants are significantly associated with congenital heart disease and heterotaxy syndrome, and the gene shows a relatively high mutation rate in patients with these conditions [3]. Additionally, DNAH11 polymorphisms are associated with asthenozoospermia in Chinese patients [4]. Mutations in DNAH11 are a common cause of primary ciliary dyskinesia with normal ciliary ultrastructure and hyperkinetic ciliary beating, and result in a subtle outer dynein arm defect in only the proximal region of respiratory cilia [6].

In conclusion, DNAH11 is crucial for ciliary function, with its variants being associated with various diseases including congenital heart disease, heterotaxy, and male infertility. Studies on DNAH11 variants help in understanding the mechanisms underlying these diseases and can potentially guide genetic counseling and treatment strategies.