Table 1.
Frequently used animal models of collagen-related genetic diseases
| BM component | Affected gene | Animal model | Disease phenotype (or human equivalent) | References |
|---|---|---|---|---|
| Collagen IV | Col4a1 | Mouse missense mutations | Cerebrovascular disease intracerebral haemorrhage Kidney disease Myopathy Eye defects HANAC syndrome |
[21–24] |
| Col4a1/ Col4a2 double null | Mouse | Embryonically lethal, growth retardation,vascular defects | [10] | |
| Col4a1 (Cg25c) and Col4a2 (Vkg) | Drosophila missense and loss of function mutation | Intestinal defects, myopathy | [25] | |
| emb-9; let-2 (Cola4a1, Col4a2) | Caenorhabditis elegans misssense mutations | Embryonically lethal | [26] | |
| Col4a2 | Mouse missense mutations | Cerobrovascular, ocular, renal and muscle defects | [21] | |
| Col4a3 | Mouse knockout and missense mutation | Autosomal recessive and dominant AS | [27,28,29] | |
| Col4a3 & Col4a4 double null | Mouse | Juvenile form of AS | [30] | |
| Col4a4 | Mouse missense mutation | Autosomal recessive AS | [31] | |
| Col4a5 | Mouse knockout and nonsense mutation | X-linked AS | [32,33] | |
| Col4a5 | Zebrafish in-frame deletion | Defective retinal axon guiding | [34] | |
| Col4a6 | Zebrafish In-frame deletion |
Defective axon guiding, cerebellar granule cells defects | [16] | |
| Collagen VI | Col6a1 | Mouse knockout, heterozygous in frame deletion | Bethlem myopathy. Mitochondrial dysfunction, defective autophagy, fibre necrosis and osteoarthritis, abnormal collagen fibrillogenesis, CNS defect | [35,36] |
| Zebrafish morpholino knockdown | Bethlem myopathy, UCMD | [37] | ||
| Zebrafish knockdown | Bethlem myopathy, UCMD, myosclerosis | [38] | ||
| Col6a3 | Mouse in-frame deletion | Dominant mild myopathy with decreased muscle mass | [39] | |
| Zebrafish knockdown, in frame deletion | Bethlem myopathy (knockdown), Ullrich syndrome (in frame deletion) | [37,40] | ||
| Col6a4 | Zebrafish knockdown | Abnormal motoneuron axon growth | [38] | |
| Collagen VII | Col7a1 | Mouse knockout hypomorph mutation | Recessive dystrophic epidermolysis bullosa | [41,42] |
| Collagen XV | Col15a1 | Mouse | Mild skeletal myopathy Cardiomyopathy Vascular dysfunction Defects in nerve development and myelination |
[43] |
| Drosophila hypomorph mutant: piggybac transposon | Neuronal function defects, cardiomyocyte, skeletal muscle defects | [44,45] | ||
| Zebrafish morpholino knockdown of Col15a1a; Col15a1b knockdown | Defective notochord and muscle development; motor axon guidance defects and muscle atrophy | [46,47], | ||
| Collagen XVII | Col17a1 | Mouse knockout | Non-Herlitz epidermolysis bullosa, growth retardation, enamel hypoplasia | [48] |
| Zebrafish col17a1a knockdown; Col17a1b knockdown | Junctional epidermolysis bullosa (Col17a1a); neuronal defect (Col17a1b) | [49] | ||
| Collagen XVIII | Col18a1 | Mouse Col18a1 knockout | Knobloch 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. elegans | Defects 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)