Deletion of LBR N-terminal domains recapitulates Pelger-Huet anomaly phenotypes in mouse without disrupting X chromosome inactivation

Abstract

Young et al. report a new mouse model for Pelger-Huet anomaly, a genetic disorder caused by mutations in the Lamin B receptor gene (Lbr) that leads to abnormal neutrophil differentiation and skeletal defects. Using CRISPR/Cas-9 editing of Lbr, which has also been associated with X chromosome inactivation (XCI), they generate a mouse model that recapitulates the major phenotypes of the disease without majorly affecting XCI.