Elmo2-flox Mouse

Elmo2, a member of the Elmo protein family, is involved in multiple biological functions. It plays roles in regulating Rac1 and Akt activation, and is associated with pathways like insulin-dependent Glut4 membrane translocation, cell chemotaxis, and the ELMO/DOCK/Rac signaling pathway. It's also crucial for maintaining vascular integrity, especially in intramembranous bones [2,1,4,6]. Gene knockout models can be valuable for studying its functions in vivo.

Loss-of-function mutations in ELMO2 in humans cause autosomal-recessive intraosseous vascular malformation (VMOS) by impeding RAC1-dependent cell migration [6]. In zebrafish, elmo2-/-mutants show some differences in vascular and glomerular structure, metabolome, and transcriptome compared to wild-type, indicating its role in regulating various biological processes [5]. In mice, Elmo2 genetic ablation in muscle-specific cells of Elmo1-/-mice leads to severe myoblast fusion defects, and mutations in Elmo2 can affect myoblast fusion during development and muscle regeneration [3].

In conclusion, Elmo2 is essential for functions like myoblast fusion, insulin-dependent Glut4 membrane translocation, and maintaining vascular integrity in intramembranous bones. Studies using gene knockout models in mice and zebrafish have revealed its role in these processes and in diseases such as intraosseous vascular malformation, contributing to our understanding of related biological mechanisms and potential therapeutic targets.