Table 1.

Mouse Models of Osteogenesis Imperfecta Used for Preclinical Studies of Novel Drug Treatments

Mouse	Gene	Nucleotide	Protein	Bone phenotype
Dominant
Brtl 127	Col1a1	c.1546G>T	Triple‐helical glycine substitution (p.Gly349Cys)	30% perinatal lethality, small body size, rib fractures, long‐bone deformity, bone fragility, reduced BMD; increased bone turnover because of increased osteoclast precursors and reduced osteoblast activity
Jrt 128	Col1a1	Splice mutation	Exon 9 skipping (deletion of 18 triple‐helical amino acids)	Small body size, short long‐bones, low BV/TV and BMD, spontaneous fractures; reduced tensile properties in the skin, tail tendon tissue reduced
G610C 129	Col1a2	c.2098G>T	Triple‐helical glycine substitution (p.Gly610Cys)	Moderately severe phenotype, depending on genetic background. Reduced body size, BV/TV, BMD and bone strength
oim+/−130	Col1a2	c.3983delG	proα2(I) decreased by 50%	Intermediate between oim‐/‐ and wild‐type; normal body size, normal cortical thickness, lower mechanical strength
Recessive
oim−/−131, 132	Col1a2	c.3983delG	proα2(I) absent	Small body size, fractures, limb deformities, cortical thinning, joint laxity, osteopenia, reduced BV/TV and BMD, kyphosis, increased osteoclast activity
Crtap−/− 133, 134	Crtap		CRTAP absent	Moderate phenotype: growth delay, skeletal deformity, kyphosis, reduced BV/TV but high bone mineralization, cartilage dysplasia, decreased material properties of the skin

+/− = heterozygous for the mutation; −/− = homozygous for the mutation; BMD = bone mineral density; BV/TV = bone volume per tissue volume.