Fam47c-KO Mouse

FAM47C, a gene with currently no widely-known common aliases, may be involved in spermatogenesis. Although its exact function and associated pathways are not fully detailed in the provided references, its role in male reproductive function is indicated, suggesting its importance in male reproductive biological processes [1,2].

Two studies have associated FAM47C with male infertility. In the first study, whole-genome sequencing in men with non-obstructive azoospermia (NOA) identified FAM47C as a gene potentially associated with infertility, along with other genes [1]. In the second study, whole exome sequencing in a family with two brothers having severe oligospermia and varicocele found a premature stop codon alteration in FAM47C. The affected brothers were hemizygous for the variant, and the mother was a heterozygous carrier, suggesting this mutation in FAM47C could be a possible cause of severe oligospermia [2].

In conclusion, FAM47C appears to play a role in male reproductive function, specifically in spermatogenesis. Findings from these genetic studies on human subjects, though not from KO/CKO mouse models, suggest that mutations in FAM47C may contribute to male infertility conditions such as non-obstructive azoospermia and severe oligospermia, highlighting its significance in understanding the genetic basis of male reproductive disorders.

References:

1. Malcher, Agnieszka, Stokowy, Tomasz, Berman, Andrea, Yatsenko, Alexander N, Kurpisz, Maciej K. 2022. Whole-genome sequencing identifies new candidate genes for nonobstructive azoospermia. In Andrology, 10, 1605-1624. doi:10.1111/andr.13269. https://pubmed.ncbi.nlm.nih.gov/36017582/

2. Chertman, Willy, Arora, Himanshu, Griswold, Anthony J, Lopategui, Diana M, Ramasamy, Ranjith. 2019. Whole Exome Sequencing Identifies a Rare Nonsense Mutation in FAM47C as a Possible Cause of Severe Oligospermia in Brothers With Varicocele. In Urology, 129, 71-73. doi:10.1016/j.urology.2019.03.016. https://pubmed.ncbi.nlm.nih.gov/30922974/