Ccdc174-flox Mouse

Ccdc174, short for coiled-coil domain-containing 174, is involved in multiple biological processes. It functions as an RNA-binding protein in mouse ES cells, associating with U1 snRNA and 5' splice sites, and is required for the selection and effective processing of weak 5' splice sites during pre-mRNA splicing, which is crucial for proper gene expression [2]. It has also been associated with mammalian reproduction and immunity-related biological processes [4,5].

In bulls, the expression level of Ccdc174 was significantly up-regulated in high-fertile bulls compared to sub-fertile ones. A fertility prediction multivariate model including Ccdc174 had a high coefficient of determination with the field conception rate, suggesting it can be a potential marker for assessing bull fertility [1]. In humans, a homozygous mutation in Ccdc174 (c.1404A>G, p.[*468Trpext*6]) was found in individuals with a syndrome of hypotonia and psychomotor developmental delay. Knockdown of the Ccdc174 ortholog in Xenopus laevis embryos led to poor neural fold closure, embryonic lethality, and reduction in the expression of neural markers. Overexpression of the mutant Ccdc174 in neuroblastoma cells caused apoptosis, and the mutation also led to myopathic changes in skeletal muscle [3].

In conclusion, Ccdc174 is important for pre-mRNA splicing, semen quality in bulls, and normal development in vertebrates. Its abnormal mutation is associated with a syndrome of hypotonia and psychomotor developmental delay in humans. Research on Ccdc174 helps in understanding biological processes related to reproduction, development, and disease mechanisms.