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An Update on Animal Models of Osteogenesis Imperfecta

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Abstract

Osteogenesis imperfecta (OI) is a heterogeneous disorder characterized by bone fragility, multiple fractures, bone deformity, and short stature. In recent years, the application of next generation sequencing has triggered the discovery of many new genetic causes for OI. Until now, more than 25 genetic causes of OI and closely related disorders have been identified. However, the mechanisms of many genes on skeletal fragility in OI are not entirely clear. Animal models of OI could help to understand the cellular, signaling, and metabolic mechanisms contributing to the disease, and how targeting these pathways can provide therapeutic targets. To date, a lot of animal models, mainly mice and zebrafish, have been described with defects in 19 OI-associated genes. In this review, we summarize the known genetic causes and animal models that recapitulate OI with a main focus on engineered mouse and zebrafish models. Additionally, we briefly discuss domestic animals with naturally occurring OI phenotypes. Knowledge of the specific molecular basis of OI will advance clinical diagnosis and potentially stimulate targeted therapeutic approaches.

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Acknowledgements

We appreciate the help from the library staff with finding the literature.

Funding

This work was supported by National Natural Science Foundation of China (No.81900805, No.81970698, No.81970708), Beijing Natural Science Foundation (No.7202216). The funding agencies had no roles in the study design, decision to publish, or preparation of the manuscript.

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  1. Department of Endocrinology and Metabolism, Peking University People’s Hospital, Xizhimen South Street No.11, Beijing, 100044, China

    Fang Lv, Xiaoling Cai & Linong Ji

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FL initiated the manuscript and wrote the first draft. ALL authors contributed to the writing of the manuscript, reviewed the final version, and approved submission.

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Lv, F., Cai, X. & Ji, L. An Update on Animal Models of Osteogenesis Imperfecta. Calcif Tissue Int 111, 345–366 (2022). https://doi.org/10.1007/s00223-022-00998-6

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