Collagen (I) homotrimer potentiates the osteogenesis imperfecta (oim) mutant allele and reduces survival in male mice
K. J. Lee, L. Rambault, G. Bou-Gharios, P. D. Clegg, R. Akhtar, G. Czanner, R. J. van 't Hof, E. G. Canty-Laird
This study shows that homotrimeric collagen-1 in oim heterozygotes alleviates the mutant allele's effect, but genetic interaction causes bone fragility in oim homozygotes.
bioRxiv · Jul 13, 2020Physiology