Number | Gene name | Reason | References |
---|---|---|---|
1 | ADCY1 | diff. Expression rd1 mouse | Chalmel et al., manuscript in preparatiom |
2 | ANKRD33 | diff. Expression rd1 mouse | Chalmel et al., manuscript in preparatiom |
3 | ANXA2 | Promotion of choroidal neovascularization | [36] |
4 | ARL13B | Cilia protein, mutations lead to Joubert Syndrome | [37] |
5 | BMP7 | Regulation of Pax 2 in mouse retina | [38] |
6 | BSG | - | Thierry Leveillard personal commmunication |
7 | CAMK2D | diff. Expression rd1 mouse | Chalmel et al., manuscript in preparatiom |
8 | CCDC28B | Modifier for BBS | |
9 | CLCN7 | Cln7-/- mice severe osteopetrosis and retinal degeneration | [41] |
10 | COL4A3 | Alport syndrome, with eye abnormalities | |
11 | COL4A4 | Alport syndrome, with eye abnormalities | |
12 | COL4A5 | Alport syndrome, with eye abnormalities | |
13 | CUBN | - | Personal communication Renata Kozyraki |
14 | CYP1B1 | glaucoma | [46] |
15 | DOHH | diff. Expression rd1 mouse | Chalmel et al., manuscript in preparatiom |
16 | DSCAML1 | diff. Expression rd1 mouse | Chalmel et al., manuscript in preparatiom |
17 | ESRRB | diff. Expression rd1 mouse | Chalmel et al., manuscript in preparatiom |
18 | FIZ1 | Interactor of NRL | [47] |
19 | GJA9 | diff. Expression rd1 mouse | Chalmel et al., manuscript in preparatiom |
20 | GNAZ | diff. Expression rd1 mouse | Chalmel et al., manuscript in preparatiom |
21 | GNGT1 | diff. Expression rd1 mouse | Chalmel et al., manuscript in preparatiom |
22 | GPR152 | diff. Expression rd1 mouse | Chalmel et al., manuscript in preparatiom |
23 | HCN1 | diff. Expression rd1 mouse | Chalmel et al., manuscript in preparatiom |
24 | HEATR5A | diff. Expression rd1 mouse | Chalmel et al., manuscript in preparatiom |
25 | HIST1H1C | Expressed in retina | Expression databases |
26 | IMPG1 | diff. Expression rd1 mouse | Chalmel et al., manuscript in preparatiom |
27 | INSL5 | diff. Expression rd1 mouse | Chalmel et al., manuscript in preparatiom |
28 | KCNB1 | diff. expression rd1 mouse | Chalmel et al., manuscript in preparatiom |
29 | KCTD7 | Expressed in retina | Expression databases |
30 | LASS4 | diff. expression rd1 mouse | Chalmel et al., manuscript in preparatiom |
31 | LRIT2 | diff. expression rd1 mouse | Chalmel et al., manuscript in preparatiom Rd1 mouse |
32 | LRP2 | - | Personal communication Renata Kozyraki |
33 | MAB21L1 | diff. expression Rd1 mouse | Chalmel et al., manuscript in preparatiom |
34 | MAP2 | diff. expression rd1 mouse | Chalmel et al., manuscript in preparatiom |
35 | MAS1 | Degeneration of cones due to expression of Mas1 | [48] |
36 | MAST2 | diff. expression rd1 mouse | Chalmel et al., manuscript in preparatiom |
37 | MPP4 | diff. expression rd1 mouse | Chalmel et al., manuscript in preparatiom |
38 | MYOC | glaucoma | [49] |
39 | NDUFA12 | diff. expression rd1 mouse | Chalmel et al., manuscript in preparatiom |
40 | NEUROD1 | BETA2/NeuroD1 -/- mouse: photoreceptor degeneration | [50] |
41 | NOS2 | glaucoma | [51] |
42 | NXNL1 | Rod-derived cone viability factor | [52] |
43 | NXNL2 | Rod-derived cone viability factor 2 | [53] |
44 | OPN1MW2 | Cone opsin, medium-wave-sensitive2 | [54] |
45 | OPTN | glaucoma | [55] |
46 | PFKFB2 | diff. expression rd1 mouse | Chalmel et al., manuscript in preparatiom |
47 | PIAS3 | Rod photoreceptor development | [56] |
48 | PKD2L1 | Diff. expression in human retinal detachment | Delyfer et al. 2011 submitted |
49 | PLEKHA1 | Age-related macular degeneratiom | [57] |
50 | PPEF2 | diff. expression rd1 mouse | Chalmel et al., manuscript in preparatiom |
51 | RAB8A | Interacts with RPGR, role in cilia biogenesis and maintenance | [58] |
52 | RABGEF1 | diff. expression rd1 mouse | Chalmel et al., manuscript in preparatiom |
53 | RCVRN | diff. expression rd1 mouse | Chalmel et al., manuscript in preparatiom |
54 | RGS20 | diff. expression rd1 mouse | Chalmel et al., manuscript in preparatiom |
55 | RNF144B | diff. expression rd1 mouse | Chalmel et al., manuscript in preparatiom |
56 | RORB | Rod photoreceptor development in mice | [59] |
57 | RXRG | Retinoic acid receptor, highly expressed in the eye | Expression databases |
58 | SGIP1 | diff. expression rd1 mouse | Chalmel et al., manuscript in preparatiom |
59 | SLC16A8 | Altered visual function in ko-mice | [60] |
60 | SLC17A7 | diff. expression rd1 mouse | Chalmel et al., manuscript in preparatiom |
61 | STAM2 | diff. expression rd1 mouse | Chalmel et al., manuscript in preparatiom |
62 | STK35 | diff. expression rd1 mouse | Chalmel et al., manuscript in preparatiom |
63 | STX3 | diff. expression rd1 mouse | Chalmel et al., manuscript in preparatiom |
64 | SV2B | diff. expression rd1 mouse | Chalmel et al., manuscript in preparatiom |
65 | TBC1D24 | diff. expression rd1 mouse | Chalmel et al., manuscript in preparatiom |
66 | THRB | Essential for M-cone development in rodents | [61] |
67 | TMEM216 | Cilia protein, mutations lead to Joubert and Meckel syndrome | [62] |
68 | TMEM67 | Cilia protein, mutations lead to Joubert | [63] |
69 | TRPC1 | diff. expression rd1 mouse | diff. expression Rd1 mouse |
70 | UHMK1 | diff. expression rd1 mouse | diff. expression Rd1 mouse |
71 | VSX1 | Stimulator for promoter NXNL1 | [64] |
72 | VSX2 | Stimulator for promoter NXNL1 | [64] |
73 | WDR17 | diff. expression rd1 mouse | diff. expression Rd1 mouse |
74 | WDR31 | diff. expression Nxnl1-/- mouse | [65] |
75 | WISP1 | diff. expression rd1 mouse | Chalmel et al., manuscript in preparatiom |
76 | XIAP | Protects photoreceptors in animal models of RP | [66] |
77 | ZDHHC2 | diff. expression Rd1 mouse | Chalmel et al., manuscript in preparatiom |