Table 2.

Summary of mouse genetic models of dominant and recessive OI.

Gene	Mouse model	Modification	Cross-linking	Skeletal Phenotype	Type	Reference
POST-TRANSLATIONAL MODIFICATION AND CROSS-LINKING
Crtap	Crtap^−/−	3Hyp↓ Overmodification	HP/LP↑	Reduced bone mass and strength	VII	[47]
Lepre1	Lepre1^−/−	3Hyp↓ Hyl↑ Overmodification	HP/LP↑	Reduced bone mass and strength	VIII	[53]
CypB	CypB^−/−	3Hyp↓ Hyl (K87)↓	HP/LP↓ HP+LP↑	Reduced bone mass and strength	IX	[55,56]
Fkbp10	Fkbp10^−/−	Hyl (telo) ↓	HP/LP↓^h HP+LP↓^h	Embryonic lethal	XI, Bruck syndrome	[63,65]
Plod2	n.a.	Hyl (telo) ↓^h Hyp↑^h	HP+LP↓^h	No mouse model available	Bruck syndrome	[59]
Serpinh1	Hsp47^−/−	Overmodification	HP/LP↑^d	Reduced bone mass	X	[66,71]
COLLAGEN SECRETION AND ER STRESS
Creb3l1	Creb3l1^−/−	n.d.	n.d.	Reduced bone mass with fractures	XVI	[6]
Mbtps2	n.a.	Hyl (K87) ↓	HP/LP↓^h	No mouse model available	n.a.	[7]
Tric-b	Tric-b^−/−	3Hyp↓^h Hyl (helical) ↓^h Hyl (telo)↑^h	n.d.	Reduced bone mass	XIV	[8,79]
COLLAGEN PROCESSING
Bmp1	Bmp1^−/−	n.d.	n.d.	Skull defects	XIII	[82]
Bmp1	Bmp1^−/−;; Tll1^−/−	n.d.	n.d.	Reduced bone mass and strength	XIII	[84]
OSTEOBLAST DIFFERENTIATION AND MINERALIZATION
Wnt1	sw/sw	n.d.	n.d.	Reduced bone mass and strength with fractures and increased ductility	XV	[103]
Sp7/Osx	Sp7/Osx^−/−	n.d.	n.d.	No bone formation	XII	[10,104]
Serpinf1	Pedf^−/−	n.d.	n.d.	Reduced bone mass	VI	[109]
Ifitm5	Ifitm5^−/−	n.d.	n.d.	Bone mass unchanged	V	[114]
Ifitm5	Tg(Col1a1-Ifitm5^c.-14C>T)	Unchanged	Unchanged	Embryonic lethal	V	[120]

3Hyp 3-hydroxyproline, Hyl hydroxylysine, telo telopeptide, HP hydroxylysylpyridinoline, LP lysylpyridinoline,

data from human patients.

data from dog model.