Table 1.
List of mutations in large animal models of inherited retinal disease. Detailed information for some genes (indicated with*) are displayed in the text, highlighting the role of large animal models in advancing the understanding of the disease mechanism and/or providing insights into normal protein structure and function. References are available in Supplementary Material Table S1.
| Mechanism | Gene | Species | Mutation |
|---|---|---|---|
| Phototransduction | RHO* | dog pig pig pig |
c.11C>G, p.Thr4Arg p.Pro23His c.1040C>T, p.Pro347Leu p.Pro347Ser |
| PDE6A* | dog | c.1939delA, p.Asn616ThrfsTer39 | |
| PDE6B* | dog | c.2420G>A, p.Trp807Ter; c.2449_2450insTGAAGTCC; p.Lys816Terfs817 c.2404_2406delAAC, p.Asn802del |
|
| PDE6C* | NHP | c.1694G>A, p.Arg565Gln | |
| SAG | dog | c.1216T>C; p.Ter406extArg*25 | |
| Visual Cycle | ABCA4* | dog | c.4176insC, p.Phe1393LeufsTer3 |
| RPE65* | dog | c.487_490delAAGA; p.Lys154LeufsTer53 | |
| RDH5* | cat | unpublished | |
| Channelopathies/channel related | CNGA1* | dog | c.1752_1755delAACT, p.Thr584SerfsTer9 |
| CNGB1* | dog | c.2387delA;2389_2390insAGCTAC, p.Ser791ArgfsTer2 | |
| CNGA3* | dog dog sheep sheep |
c.1270C>T; p.Arg424Trp c.1931_1933delTGG, p.Val644del p.Arg236Ter p.Gly540Ser |
|
| CNGB3* | dog | c.784G>A; p.Asp262Asn CFA29:g.35,699,378-36,104,197del, c.0 |
|
| BEST1* | dog | c.73C>T, p.Arg25Ter; c.482G>A, p.Gly161Asp; c.C1388del and c.1466G>T, p.Pro463fs and p.Gly489Val |
|
| Ciliopathies | BBS4* | dog | c.58A>T, p.Lys20Ter |
| BBS7* | NHP | c.160delG, p.Ala54GlnfsTer18 | |
| c2orf71 | dog | c.3149_3150insC, p.Lys1051ValfsTer91 | |
| CCDC66 | dog | c.521_522insA, p.Asn174LysfsTer2 | |
| CEP290* | cat | c.6966+9T>G, p.Ile2323AlafsTer3 | |
| FAM161A | dog | c.1758-15_1758-16ins238, p.Ser588MetfsTer14 | |
| NPHP4* | dog | c.462_526del, p.Leu155LysfsTer2 | |
| NPHP5(IQCB1)* | dog cat |
c.952-953insC, p.Ser319IlefsTer13 c.1282delCT, p.Leu428Ter |
|
| RPGR* | dog | c.1084-1085delGA, c.1028-1032delGAGAA CFAX:g. 33106747+190-33102324del |
|
| RGRIP1* | dog | CFA15:g.8228_8229insA29GGAAGCAACAGGATG | |
| TTC8 | dog | c.669delA, p.Lys223ArgfsTer15 | |
| Photoreceptor development | CRX* | cat | c.546delC, p.Pro185LysfsTer2 |
| STK38L* | dog | c.299_300ins [218;285_299]; p.Lys63_Glu103del | |
| Photoreceptor to Bipolar Cell | LRIT3* | dog | c.762_763delG, p.Lys246AsnfsTer5 |
| TRPM1* | horse | ECA1g.108,297,929_108,297,930ins1378 | |
| Whippet* | dog | unpublished | |
| Structural/Other | ADAM9* | dog | c.1592_1881del p.Lys531AsnfsTer3 |
| AIPL1* | cat | c.577C>T, p.Arg193Ter | |
| MERTK* | dog | CFA17:g.36338057_36338058ins[(6401);36338043-36338057] | |
| PRCD* | dog | c.5G>A, p.Cys2tyr | |
| RD3* | dog | c.418_419ins[22] | |
| NECAP1 | dog | c.544G>A, p.Gly182Arg | |
| PPT1 | dog | CFA15:g.[2,866,454_2,877,574dup; 2,874,661_2,875,048con2,877,563-2,877,607inv] | |
| SLC4A3 | dog | c.2601_2602insC, p.Glu868ArgfsTer104 |