Additionally, we observed the presence of CCDC134 in cytoplasmic vesicles and endoplasmic reticulum, and the disruption of Ccdc134 in mice led to embryonic lethality while loss-of function mutations in CCDC134 are responsible for a severe autosomal recessive form of osteogenesis imperfecta (16, 27), suggesting the function of CCDC134 is multifaceted and complex. The gene discussed is CCDC134; the disease is osteogenesis imperfecta.