Ontology highlight
ABSTRACT:
SUBMITTER: Vermeren M
PROVIDER: S-EPMC5680368 | biostudies-literature | 2017 Dec
REPOSITORIES: biostudies-literature
Mammalian genome : official journal of the International Mammalian Genome Society 20170921 11-12
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 ...[more]