Cfap410-flox Mouse

CFAP410, also previously known as C21orf2, is a protein-coding gene. It localizes at the basal body of cilia/flagella and plays essential roles in ciliogenesis, neuronal development, and DNA damage repair [3,4]. Cilia are crucial organelles, and defects in their structure or function lead to ciliopathies, highlighting the importance of CFAP410 in maintaining normal cellular function.

Mutations in CFAP410 have been associated with various diseases. In nine patients from eight families, biallelic variants in CFAP410 were found, leading to retinal dystrophy, including cone-rod dystrophy and retinitis pigmentosa. Early-stage CFAP410-associated retinopathy shows tapetoretinal degeneration, often with double hyperautofluorescence rings, and posterior staphyloma [1]. In a cone-rod dystrophy patient, two compound heterozygous mutations in CFAP410 were identified, and in vitro studies suggested that these mutations affected cell cycle, protein stability, and ubiquitination levels [2]. A patient with a homozygous in-frame duplication in CFAP410 presented with cone-rod dystrophy, macular staphyloma, and short stature [5]. Additionally, in sixteen families, rare bi-allelic variants in CFAP410 caused early-onset non-syndromic retinal degenerations [6].

In conclusion, CFAP410 is essential for ciliogenesis and has implications in neuronal development and DNA damage repair. Studies on patients with CFAP410 mutations have revealed its role in various ciliopathies, particularly those related to retinal degeneration. Understanding CFAP410 provides insights into the mechanisms of these diseases, potentially guiding future treatment strategies.