biostudies-literatureUnknown20Xu QFilamin B (FLNB) plays an important role in skeletal development. Mutations in <i>FLNB</i> can lead to skeletal malformation such as an abnormal number of ossification centers, indicating that the skeletal segmentation in the embryonic period may be interfered with. We established a mouse model with the pathogenic point mutation <i>FLNB</i> NM_001081427.1: c.4756G > A (p.Gly1586Arg) using CRISPR-Cas9 technology. Micro-CT, HE staining and whole skeletal preparation were performed to examine the skeletal malformation. <i>In situ</i> hybridization of embryos was performed to examine the transcription of <i>HOX</i> genes during embryonic development. The expression of <i>FLNB</i> was downregulated in <i>FLNB</i>^{<i>G1586R/G1586R</i>} and <i>FLNB</i>^{<i>WT/G1586R</i>} mice, coBone reports101746https://www.ebi.ac.uk/biostudies/studies/S-EPMC10924170biostudies-literatureDisruption of <i>FLNB</i> leads to skeletal malformation by interfering with skeletal segmentation through the <i>HOX</i> gene.PMC10924170Cui LXu QLin YCui LAXia WfalseDisruption of <i>FLNB</i> leads to skeletal malformation by interfering with skeletal segmentation through the <i>HOX</i> gene.Filamin B (FLNB) plays an important role in skeletal development. Mutations in <i>FLNB</i> can lead to skeletal malformation such as an abnormal number of ossification centers, indicating that the skeletal segmentation in the embryonic period may be interfered with. We established a mouse model with the pathogenic point mutation <i>FLNB</i> NM_001081427.1: c.4756G > A (p.Gly1586Arg) using CRISPR-Cas9 technology. Micro-CT, HE staining and whole skeletal preparation were performed to examine the skeletal malformation. <i>In situ</i> hybridization of embryos was performed to examine the transcription of <i>HOX</i> genes during embryonic development. The expression of <i>FLNB</i> was downregulated in <i>FLNB</i>^{<i>G1586R/G1586R</i>} and <i>FLNB</i>^{<i>WT/G1586R</i>} mice, co2024-01-01T00:00:00Z2024 Mar2025-04-04T21:31:04.842Z2025-04-04T21:31:04.842ZS-EPMC109241703846338110.1016/j.bonr.2024.101746