Table 1.
Overview of achromatopsia genes, animal models and preclinical studies
| Gene | Chromosomal location | Phenotype/OMIM | Animal models | POC studies |
|---|---|---|---|---|
| ATF6 | 1q23.3 | ACHM7/605537 | KO mouse [12] | – |
| CNGA3 | 2q11.2 | ACHM2/600053 | KO mouse [66], cpfl5 mouse [91], ovine model [80] | [67, 80, 81, 83, 84, 96] |
| CNGB3 | 8q21.3 | ACHM3/605080 | KO mouse, mutant mouse [21], canine model [97], NHP model [51] | [75, 76, 89] |
| GNAT2 | 1p13.3 | ACHM4/139340 | Cpfl3 mouse [71] | [78] |
| PDE6C | 10q23.33 | Cone dystrophy 4/600827 | Cpfl1 mouse [72] | – |
| PDE6H | 12p12.3 | ACHM6/601190 | KO mouse [30] | – |
KO knockout, NHP non-human primate, OMIM Online Mendelian Inheritance in Man, POC proof of concept