Table 1 Frequently used animal models of collagen-related genetic diseases
BM componentAffected geneAnimal modelDisease phenotype (or human equivalent)References
Collagen IVCol4a1Mouse missense mutationsCerebrovascular disease intracerebral haemorrhage
Kidney disease
Myopathy
Eye defects
HANAC syndrome
[21–24]
Col4a1/ Col4a2 double nullMouseEmbryonically lethal, growth retardation,vascular defects[10]
Col4a1 (Cg25c) and Col4a2 (Vkg)Drosophila missense and loss of function mutationIntestinal defects, myopathy[25]
emb-9; let-2 (Cola4a1, Col4a2)Caenorhabditis elegans misssense mutationsEmbryonically lethal[26]
Col4a2Mouse missense mutationsCerobrovascular, ocular, renal and muscle defects[21]
Col4a3Mouse knockout and missense mutationAutosomal recessive and dominant AS[27,28,29]
Col4a3 & Col4a4 double nullMouseJuvenile form of AS[30]
Col4a4Mouse missense mutationAutosomal recessive AS[31]
Col4a5Mouse knockout and nonsense mutationX-linked AS[32,33]
Col4a5Zebrafish in-frame deletionDefective retinal axon guiding[34]
Col4a6Zebrafish
In-frame deletion
Defective axon guiding, cerebellar granule cells defects[16]
Collagen VICol6a1Mouse knockout, heterozygous in frame deletionBethlem myopathy. Mitochondrial dysfunction, defective autophagy, fibre necrosis and osteoarthritis, abnormal collagen fibrillogenesis, CNS defect[35,36]
Zebrafish morpholino knockdownBethlem myopathy, UCMD[37]
Zebrafish knockdownBethlem myopathy, UCMD, myosclerosis[38]
Col6a3Mouse in-frame deletionDominant mild myopathy with decreased muscle mass[39]
Zebrafish knockdown, in frame deletionBethlem myopathy (knockdown), Ullrich syndrome (in frame deletion)[37,40]
Col6a4Zebrafish knockdownAbnormal motoneuron axon growth[38]
Collagen VIICol7a1Mouse knockout hypomorph mutationRecessive dystrophic epidermolysis bullosa[41,42]
Collagen XVCol15a1MouseMild skeletal myopathy Cardiomyopathy
Vascular dysfunction
Defects in nerve development and myelination
[43]
Drosophila hypomorph mutant: piggybac transposonNeuronal function defects, cardiomyocyte, skeletal muscle defects[44,45]
Zebrafish morpholino knockdown of Col15a1a; Col15a1b knockdownDefective notochord and muscle development; motor axon guidance defects and muscle atrophy[46,47],
Collagen XVIICol17a1Mouse knockoutNon-Herlitz epidermolysis bullosa, growth retardation, enamel hypoplasia[48]
Zebrafish col17a1a knockdown; Col17a1b knockdownJunctional epidermolysis bullosa (Col17a1a); neuronal defect (Col17a1b)[49]
Collagen XVIIICol18a1Mouse Col18a1 knockoutKnobloch syndrome; human pigment dispersion syndrome, hydrocephalus, kidney defect, adipocyte differentiation defect-metabolic defect[50]
Col15a1 and Col18a1 knockout[51]
Col18a1 isoform-specific knockout[52]
cle-1 (Col18)C. elegansDefects in cell and axon migration and neuromuscular synapse function[53]
  • Due to space limitations, only the original references describing the animal model could be included. HANAC (hereditary angiopathy with nephropathy aneurysm and cramps), CNS (central nervous system) UCMD (Ullrich congenital muscular dystrophy).