Cfap298-flox Mouse

Cfap298, also known as C21orf59, is a gene crucial for cilia motility and polarity. Motile cilia are vital organelles in development and fertility, and Cfap298 is involved in the transport/assembly of ciliary dyneins [2]. Defects in this protein can cause primary ciliary dyskinesia.

In zebrafish, the cfap298tm304 mutant line shows alteration of cerebrospinal fluid (CSF) flow due to defective cilia motility. 63% of these zebrafish present a three-dimensional spinal deformity during the juvenile phase, which is more frequent in females, has a right convexity, a rotational component, and involves at least one dislocation, mirroring the phenotype of human adolescent idiopathic scoliosis (AIS) [1]. In Chlamydomonas, mutation of FBB18, an ortholog of CFAP298, causes no or short cilia accompanied by partial loss of both outer and inner dynein arms, with partial degradation of almost all axonemal dynein heavy chains, indicating its role in dynein pre-assembly [3].

In conclusion, Cfap298 is essential for cilia-related functions, especially in the pre-assembly of ciliary dyneins. Studies using zebrafish and Chlamydomonas as research models have revealed its significance in maintaining spine alignment and cilia structure, providing insights into diseases like AIS and primary ciliary dyskinesia.