Npr2-flox Mouse

Npr2, also known as natriuretic peptide receptor 2, encodes the B-type natriuretic peptide receptor (NPR-B), a key regulator in multiple biological processes. It is involved in the Nppc/Npr2/cGMP signaling cascade, which is crucial for maintaining oocyte developmental capacity, regulating skeletal growth, and influencing cartilage and bone morphogenesis [1-3, 6-8].

In mouse models, Npr2slw/slw mice lacking Npr2 show vasodilation in mesenteric blood vessels, undeveloped mesenteric adipocytes, and severe ileus-like disorder with bloodless blood vessels, indicating the importance of Npr2 in mesentery-related functions [1]. In humans, heterozygous loss-of-function variants in NPR2 cause short stature with nonspecific skeletal abnormalities, accounting for 2-6% of idiopathic short stature cases. These variants also lead to phenotypes such as acromesomelic dysplasia, Maroteaux type, and affect chondrocyte function through ER stress [2, 3, 6-8].

In conclusion, Npr2 is essential for oocyte development, skeletal growth, and mesentery-related functions. The study of Npr2 in gene-knockout mouse models and human genetic variants has provided valuable insights into its role in various biological processes and diseases, especially short-stature-related disorders.