. 2017 Mar 20;18(3):665. doi: 10.3390/ijms18030665

Table 1.

Mutations in collagen genes that may induce ER stress/UPR and lead to dysplasia.

Collagen Chain	Mutation Described	Dysplasia Resulting from Mutation(s)	Observed	References
COL1A1	Aga2/+ mouse; C-propeptide mutation in col1a1	Osteogenesis imperfecta	UPR leads to osteoblast apoptosis	[44]
COL2A1	Col2a1 p.Gly1170Ser mouse	Chondrodysplasia	UPR leads to apoptosis of chondrocytes prior to hypertrophy; no hypertrophic zone formed	[45]
COL2A1	Dmm/+ mouse; C-propeptide mutation in col2a1	Chondrodysplasia with early-onset OA	UPR leads to articular chondrocyte apoptosis, contributes to early OA	[28]
COL3A1	15 human patients with unique col3a1 mutations	Ehlers-Danlos type IV	Retention of Col3a1 procollagen in ER; distension of rough ER	[46]
COL5A1	21 patients harboring unique mutations in Col5a1 or Col5a2	Classic Ehlers-Danlos	Variability in collagen fibril diameter, collagen cauliflowers (aggregates), and dilated ER	[47]
COL5A2	21 patients harboring unique mutations in Col5a1 or Col5a2	Classic Ehlers-Danlos		[47]
COL10A1	Transgenic mouse: 13 bp deletion within NC1 domain (13del)	Metaphyseal chondrodysplasia, type Schmid (MCDS)	UPR induction in hypertrophic chondrocytes and dedifferentiation to a pre-hypertrophic state	[48]