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

摘要

a Top, Pelguer–Huet characteristic neutrophil and eosinophil and lymphocyte chromatin defects are shown (blood from female animals are presented, but no sex-specific effect has been observed). Black arrows in LBR NT-KO animals indicate defects in chromatin organization in the shown cell types. Scale bar indicates 5 µm. b No skin/fur defects were observed in LBR NT-KO animals. A female adult WT and a LBR NT-KO mouse are shown next to each other are shown. c No skeletal defects in front (left) and rear (right) paws have been observed in any analyzed category (female animals are shown in this figure, but no sex-specific effect has been observed). Scale bar indicates 1 mm. d The table shows perinatal mortality from different classes of crosses indicating the parental origin of the mutation (father: ft; mother: mt). born: born; wean: weaned; peri-mort: perinatal mortality; mutation classes are shown. A one-way ANOVA (Kruskal–Wallis test), followed by a post hoc multiple comparison tests (Dunn’s test) have been used to compare the number of weaned mice in each group to the WT/WT condition (the analysis was done per litter).