We have an animal model of Osteogenesis Imperfecta, a rare genetic disorder that affects the production of collagen and causes brittle bones prone to fractures. Researchers have divided this heterogeneous disease into at least 17 subtypes. Autosomal dominant mutations in the genes encoding type I collagen (COL1A1 and COL1A2) cause most cases of OI and classify them into subtypes I and IV.

Pharmatest provides a preclinical mouse model for osteogenesis imperfecta (OI) where ‘Amish variant’ mice with a G610C mutation in the Col1a2 gene are used. These mice, particularly when expressing the heterozygous form of this mutation (+/G610C), closely replicate human type IV osteogenesis imperfecta with a mild-to-moderate severity. Their phenotype showcases characteristics akin to the human condition, displaying reduced bone mineral density and compromised bone strength.

This model serves as a crucial tool in studying the pathology of osteogenesis imperfecta and evaluating potential therapeutic strategies aimed at mitigating the effects of this genetic disorder on bone health. Preclinical efficacy studies with animal models of OI provide first-hand information about the effects of new possible therapies before proceeding to clinical trials.