Osteoclast stimulation factor 1 (Ostf1) KNOCKOUT increases trabecular bone mass in mice

Mamm Genome. 2017 Dec;28(11-12):498-514. doi: 10.1007/s00335-017-9718-3. Epub 2017 Sep 21.

Abstract

Osteoclast stimulation factor 1 (OSTF1) is an SH3-domain containing protein that was initially identified as a factor involved in the indirect activation of osteoclasts. It has been linked to spinal muscular atrophy in humans through its interaction with SMN1, and is one of six genes deleted in a human developmental microdeletion syndrome. To investigate the function of OSTF1, we generated an Ostf1 knockout mouse model, with exons 3 and 4 of Ostf1 replaced by a LacZ orf. Extensive X-Gal staining was performed to examine the developmental and adult expression pattern, followed by phenotyping. We show widespread expression of the gene in the vasculature of most organs and in a number of cell types in adult and embryonic mouse tissues. Furthermore, whilst SHIRPA testing revealed no behavioural defects, we demonstrate increased trabecular mass in the long bones, confirming a role for OSTF1 in bone development.

MeSH terms

  • Animals
  • Bone Density / genetics*
  • Bone and Bones / metabolism
  • Cells, Cultured
  • Exons / genetics
  • HEK293 Cells
  • Humans
  • Intracellular Signaling Peptides and Proteins
  • Mice
  • Mice, Inbred C57BL
  • Mice, Knockout
  • Osteoclasts / metabolism*
  • Peptides / genetics*

Substances

  • Intracellular Signaling Peptides and Proteins
  • Peptides
  • osteoclast stimulating factor