Cfap53-flox Mouse

Cfap53, also known as CCDC11, is a gene encoding a coiled-coil protein essential for cilial motility [1,2,4,5,6]. It is involved in pathways related to the formation and function of motile cilia, which play crucial roles in various biological processes such as embryonic development, organ laterality determination, and sperm flagellum biogenesis [1,2,3,4,5]. Genetic models, including knockout mouse models, have been valuable in studying Cfap53's function.

In Cfap53 knockout mice, node (9 + 0) cilia were immotile, while tracheal and ependymal (9 + 2) cilia retained motility but with an altered beat pattern. CFAP53 localized differently in these cilia types, facilitating axonemal transport of TTC25 and dyneins at the base of node cilia and stabilizing dynein binding to microtubules in 9 + 2 cilia [2]. In zebrafish, loss-of-function mutants of cfap53 had specific defects in organ laterality and randomization of asymmetric gene expression, with cilia rotation specifically impaired in Kupffer's vesicle [4]. In male mice, Cfap53 knockout led to complete infertility due to impaired sperm flagellum biogenesis [3].

In conclusion, Cfap53 is essential for the proper function of motile cilia, playing a key role in processes like cilia-mediated fluid flow for organ laterality determination during embryonic development and sperm flagellum biogenesis for male fertility. Studies using gene-knockout mouse and zebrafish models have significantly enhanced our understanding of Cfap53's role in these processes and related disease conditions such as laterality defects and male infertility [1,2,3,4].