Khdc3-flox Mouse

Khdc3, also known as Filia, is a gene encoding a KH-domain protein. It is a component of the sub-cortical maternal complex (SCMC), which is essential for early embryogenesis and female fertility, conserved across mammals. The SCMC is involved in processes such as cytoplasmic lattice formation, organelle distribution, and is hypothesized to play roles in chromatin reprogramming and embryonic genome activation [3,4,5].

Acute deletion of all three Tet genes in mouse embryonic stem cells (mESC) leads to decreased expression of Khdc3, resulting in chromosome mis-segregation, aneuploidy, and mitotic infidelity, indicating that TET proteins regulate Khdc3 gene expression and its deficiency contributes to genome instability [1]. Also, female mice descended from ancestors with a Khdc3 mutation have hepatic metabolic defects that persist over multiple generations, suggesting its role in trans-generational inheritance of phenotypes [2].

In conclusion, Khdc3 plays crucial roles in early embryonic development, genome stability, and trans-generational metabolism regulation. Mouse models with Khdc3-related gene knockouts have revealed its functions in these biological processes, potentially providing insights into diseases related to embryonic development disorders and metabolic diseases.