Deletion of LBR N-terminal domains recapitulates Pelger-Huet anomaly phenotypes in mouse without disrupting X chromosome inactivation
oleh: Alexander Neil Young, Emerald Perlas, Nerea Ruiz-Blanes, Andreas Hierholzer, Nicola Pomella, Belen Martin-Martin, Alessandra Liverziani, Joanna W. Jachowicz, Thomas Giannakouros, Andrea Cerase
| Format: | Article |
|---|---|
| Diterbitkan: | Nature Portfolio 2021-04-01 |
Deskripsi
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.