Table 1:
Animal models of rare diseases generated using CRISPR/Cas9 genome editing approach
| Disease | Species | Type of mutation | Reference | |
|---|---|---|---|---|
| 1. | Niemann-Pick disease type C1 (NPC1) | Zebrafish | Null mutant of Npc1 gene | 22 |
| 2. | Desbuquois dysplasia (DD) type 1 | Mouse | Knockout of Cant1 gene | 24 |
| 3. | Cystic fibrosis | Rat | Knockout/ deletion of Cftr gene | 25 |
| 4. | Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins (ACDMPV) | Mouse | Knock-in mutation in Foxf1 gene | 7 |
| 5. | Primary hyperoxaluria type I (PH1) | Mouse | Gene correction in Agxt1 gene | 26 |
| 6. | X-linked retinitis pigmentosa (XLRP) | Mouse | Transgenic expression of Rpgr gene | 27 |
| 7. | Bronchopulmonary dysplasia (BPD) | Mouse | Expression of exogenes Foxf1 and Foxm1 from nanoparticle vector | 47 |