Osteogenesis Imperfecta
Over the past few years, research on animal models carrying spontaneous or induced genetic mutations has greatly enhanced our understanding of gene function and the potential pathogenic processes of osteogenesis imperfecta (OI). Our team of highly specialized experts is dedicated to providing a range of disease modeling services, including custom animal models and preclinical testing services. These animal models are invaluable for studying genetic mutation effects on bone development and testing potential therapeutic approaches. This will greatly facilitate new drug discovery for targeted-mechanism-based therapies.
Background of Osteogenesis Imperfecta
OI is a group of genetic disorders characterized by changes in type I collagen molecules that result in fragile bones, which leads to bone fragility and susceptibility to fracture, bone deformity, and growth deficiency. The severity of the disease varies widely, ranging from mild to severe, and may be accompanied by other symptoms such as short stature, hearing loss, blue sclera, dentinogenesis imperfecta, and joint hyperlaxity. There is currently no cure for OI, and therapy focuses on symptom control and complications prevention.
As more causative genes have been identified, several animal models of OI have been developed. Of these, mouse models of OI have been the most extensively studied because of their genetic and pathological similarities to those of human beings. From a biomechanical point of view, the dog is a more suitable model for the forces applied to the human skeleton than the mouse. In addition to well-studied mammalian models including mice and dogs, new small animal models such as zebrafish are emerging.
Fig. 1 Biosynthesis pathway of collagen type I. (Lv F, et al., 2022)Our Services
We are committed to providing our clients with the highest quality disease modeling services and we use state-of-the-art techniques to ensure the highest quality and accuracy of our models. Our rich animal models can simulate various mechanisms, including defects in collagen structure or processing, defects in collagen folding and crosslinking, and ossification or mineralization defects. Through gene targeting, chemical mutagenesis, transgenic technology, and other methods, we provide our clients with a variety of OI animal models, including but not limited to:
- Mouse models
- Mouse models of COL1A1, including Mov13-/- mice, Mov13± mice, G859C Col1a1 mice, COL1A1 transgenic mice, heterozygous Col1a1±365 mice, brittle mice (Brtl), Jrt heterozygous mice, Col1a1seal mice, and heterozygous abnormal gait 2 (Aga2) mice.
- Mouse models of COL1A2, including G610C OI (Amish, Col1a2tm1.1Mcbr) mice and OIM mice.
- Mouse models of BMP1
- Mouse models of CRTAP, including Crtap-/- mice.
- Mouse models of P3H1, including P3H1 null mice and Lepre1H662A/H662A mice.
- Mouse models of PPIB, including Ppib-/- mice.
- Mouse models of TMEM38B, including Tric-B knock-out mice.
- Mouse models of FKBP10, including Fkbp10-/- mice and ScxCKO mice.
- Canine models
- Canine models of COL1A1, including G208A Colla1 Golden Retriever.
- Canine models of COL1A2, including Colla2 Frameshift Beagle.
- Zebrafish models
- Zebrafish models of col1a1a, col1a1b, and col1a2.
- Zebrafish models of CRTAP and P3H1.
- Zebrafish models of BMP1.
Preclinical Testing Services
In addition to our animal modeling services, we also offer a range of preclinical testing services to evaluate the safety and efficacy of potential therapies for OI.
- Histological and histomorphometric evaluation of bone
- Measurement of bone microstructure using imaging techniques, such as μCT and Raman spectroscopy
- Analysis of bone biomechanics (three- and four-point bending test or torsion)
- Analysis of molecular parameters (Immunoassay or transcriptome analysis)
Our team of experts has extensive experience in developing and characterizing animal models of OI disease. We are well-positioned to provide clients with expert technical support in understanding the cellular, signaling, and metabolic mechanisms that contribute to the disease and how targeting these pathways can provide therapeutic targets. Our team of experts, state-of-the-art facilities, and commitment to personalized service make us a leader in the field of disease modeling. If you are interested in our disease modeling services, please contact us for more information.
Reference
- Lv, F.; et al. An update on animal models of osteogenesis imperfecta. Calcified Tissue International, 2022, 111(4): 345-366.
All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.
