Nup35-KO Mouse

Nup35, also known as Nup53 in vertebrates, is a nucleoporin that is part of the nuclear pore complex (NPC). NPCs are gateways for transport between the nucleus and cytoplasm in eukaryotic cells, and Nup35 is involved in crucial processes such as nuclear envelope assembly, nucleo-cytoplasmic transport, and regulation of gene expression [1]. It has been linked to various biological functions and disease-related pathways, making it an important target for in vivo functional studies.

In a mouse model with a point mutation in the RNA recognition motif of the Nup35 gene, mice developed a severe megacolon due to a degenerative myopathy specifically affecting the smooth muscle in the colon, suggesting Nup35's role in maintaining normal colonic smooth muscle function [3]. In Caenorhabditis elegans, depletion of Nup35/NPP-19 led to chromosome missegregation, nuclear morphology defects, and impaired nuclear envelope function, highlighting its importance in early embryonic development [1]. In cardiomyocytes, Nup35 ablation weakened resistance to acid challenges by depressing the expression of Na⁺-H⁺ exchanger-1 (NHE1), indicating its role in regulating cardiomyocyte pH homeostasis [2].

In conclusion, Nup35 plays essential roles in multiple biological processes, including nuclear envelope formation, early embryogenesis, smooth muscle function in the colon, and cardiomyocyte pH regulation. Mouse models with Nup35 mutations have been valuable in revealing its role in diseases such as degenerative colonic smooth muscle myopathy, providing insights into potential disease mechanisms and therapeutic targets.