Pleotropic effects of a recessive C <i>OL1α2</i> mutation occurring in a mouse model of severe osteogenesis imperfecta

Abstract excerpt

Approximately 85-90% of individuals with Osteogenesis Imperfecta (OI) have dominant pathogenic variants in the COL1A1 or COL1A2 genes. This leads to decreased or abnormal Collagen type I production. Subsequently, bone formation is strongly reduced, causing bone fragility and liability to fractures throughout life. OI is clinically classified in 5 types with the severity ranging from mild to lethal depending on th...

Topics

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• Collagen
• Collagen Type I
• Extracellular Matrix
• Genetic Predisposition to Disease
• Mutation
• Osteogenesis Imperfecta
• Phenotype
• Protein Processing, Post-Translational

Identifiers and source

Literature Corpus work

e2e442e0-ed33-5845-a66f-7aa86965a933

DOI

10.1101/2024.02.15.580510