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

Matthieu Vermeren, Rodanthi Lyraki, Sachin Wani, Rannar Airik, Omar Al Bagha, Richard Mort, Friedhelm Hildebrandt, Toby Hurd

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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.

Original languageEnglish
Pages (from-to)498-514
Number of pages17
JournalMammalian Genome
Volume28
Issue number11-12
DOIs
Publication statusPublished - 1 Dec 2017

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ASJC Scopus subject areas

  • Genetics

Cite this

Vermeren, M., Lyraki, R., Wani, S., Airik, R., Al Bagha, O., Mort, R., Hildebrandt, F., & Hurd, T. (2017). Osteoclast stimulation factor 1 (Ostf1) KNOCKOUT increases trabecular bone mass in mice. Mammalian Genome, 28(11-12), 498-514. https://doi.org/10.1007/s00335-017-9718-3