Disruption of FLNB leads to skeletal malformation by interfering with skeletal segmentation through the HOX gene.

ABSTRACT: Filamin B (FLNB) plays an important role in skeletal development. Mutations in FLNB 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 FLNB 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. In situ hybridization of embryos was performed to examine the transcription of HOX genes during embryonic development. The expression of FLNB was downregulated in FLNB^{G1586R/G1586R} and FLNB^WT/G1586R mice, co

SUBMITTER: Xu Q 

PROVIDER: S-EPMC10924170 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature