Lung scRNA-seq reveals chronic inflammation and emphysemous phenotype in mice with Osteogenesis Imperfecta

Osteogenesis imperfecta (OI), or brittle bone disease, is a rare congenital disorder characterized by bone fragility and increased fracture incidence. Genetic and allelic heterogeneity underlie the phenotypic spectrum of OI and yet all forms commonly feature early mortality stemming from pulmonary complications, the molecular cause for which has not been resolved. Using single-cell RNAseq, we identified novel molecular and cellular mechanisms underlying the lung abnormalities observed in our Col1a1Aga2/+ (Aga2) mouse, which recapitulates a moderate form of OI.