Pofut2, also known as FUT13, is a protein O-fucosyltransferase. It is essential for proper development in mice. Pofut2 adds O-linked fucose to Thrombospondin Type 1 Repeats (TSR) in many proteins, a post-translational modification that is involved in various biological processes such as ECM remodeling, signaling during bone development, and embryonic gastrulation [1,2,4,5].

Mouse models have been crucial in understanding Pofut2's function. Knockout (KO) of Pofut2 in mouse embryos leads to early embryonic lethality [4,5]. Conditional knockout (CKO) of Pofut2 in the developing limb mesenchyme using Prrx1-Cre recombinase caused limb shortening, long bone and tendon defects, and joint stiffness, with impacts on BMP, IHH, and TGF-β signaling [4]. In HEK293T cells, CRISPR-Cas9-mediated knockout of POFUT2 blocked the secretion of ADAMTS9, and the similarity of phenotypes between Pofut2 and Adamts9 knockout mice suggested that defects in ADAMTS9 secretion contribute to gastrulation defects in Pofut2 mutants [5]. However, knockout of Pofut2 or B3glct in mice did not reduce the trafficking of endogenous THBS1 to platelet secretory granules [3].

In conclusion, Pofut2 is essential for multiple biological processes, especially during development. Mouse KO and CKO models have revealed its role in processes like embryonic gastrulation and bone development. These findings contribute to our understanding of the underlying mechanisms in these biological processes and potentially related diseases [4,5].