Osteoclast-independent osteocyte dendrite defects in mice bearing the osteogenesis imperfecta-causing Sp7 R342C mutation.

ABSTRACT: Osteogenesis imperfecta (OI) is a group of diseases caused by defects in type I collagen processing which result in skeletal fragility. While these disorders have been regarded as defects in osteoblast function, the role of matrix-embedded osteocytes in OI pathogenesis remains largely unknown. Homozygous human SP7 (c.946 C > T, R316C) mutation results in a recessive form of OI characterized by fragility fractures, low bone mineral density and osteocyte dendrite defects. To better understand how the OI-causing R316C mutation affects the function of SP7, we generated Sp7^R342C knock-in mice. Consistent with patient phenotypes, Sp7^R342C/R342C mice demonstrate increased cortical porosity and reduced cortical bone mineral density. Sp7^R342C/R342C mice show osteocy

SUBMITTER: Wang JS 

PROVIDER: S-EPMC12276330 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature