Table 1.
Genetic models for RP
| Animal models | Genotypes | Genes | Site of origin | References | |
|---|---|---|---|---|---|
| Mice | Natural | Peripherin‐rds | Peripherin‐rds | Null mutation in the rds/peripherin gene | 4 |
| Rd | Peripherin‐rds | rd/rd (retinal degeneration) mice | 5 | ||
| Rd‐1 | PDE6B | Nonsense mutation in exon 7 of the Pde6b gene in all mouse strains with the rd1 mutation | 6 | ||
| Rd‐4 | – | Inversion encompasses nearly all of Chromosome 4 | 7 | ||
| Rd‐8 | CRB1 | Single base deletion in the Crb1 gene | 8 | ||
| Rd‐10 | PDE6B | Mutation in PDE6b | 9 | ||
| Rd‐12 | RPE65 | Homozygous for the rd12 mutation | 10 | ||
| Rd‐16 | CEP290 | In‐frame deletion in a centrosomal protein CEP290 | 11 | ||
| Transgenic | 307 1‐bp del | Peripherin‐rds | Single base deletion at codon 307 of the rds‐peripherin gene in mice | 12 | |
| C214S | Peripherin‐rds | Peripherin‐rds with the C214S (Cys214–>Ser) missense mutation | 13 | ||
| Crx knockout | Cone‐rod homeobox | Cone‐rod homeobox gene knockout | 14 | ||
| Knockout RPE65 | Rhodopsin | Mice that lack the visual pigment rhodopsin (Rpe65‐/‐) | 15 | ||
| l‐255/256 | Opsin | Mutant opsin gene with a 3‐bp deletion of isoleucine at codon 255/256 | 16 | ||
| L185P/Rom‐1 null | Peripherin‐rds | Doubly heterozygous for a mutation in RDS causing a leucine 185 to proline substitution in rds (L185P) and a null mutation in ROM1 | 17 | ||
| MERTK KO | MERTK | Homozygous for a targeted disruption of the Mer receptor tyrosine kinase gene (mer(kd)) | 18 | ||
| NMF282 | PDE6A | Ethyl nitrosourea (ENU) mutagenesis | 19 | ||
| NMF363 | PDE6A | Ethyl nitrosourea (ENU) mutagenesis | 19 | ||
| P216L | Peripherin‐rds | Proline 216 to leucine (P216L) amino acid substitution in rds/peripherin | 20 | ||
| P23H | Rhodopsin | Missense mutation (P23H) in the rhodopsin gene | 21 | ||
| P347S | Rhodopsin | Rhodopsin, proline‐347 to serine (P347S) mutation | 22 | ||
| Q344ter | Rhodopsin | Heterozygotes with the glutamine‐344‐to‐ter (Q344ter) mutations in the rhodopsin gene (stop codon mutation) | 23 | ||
| Rd12j (NMF137) | PDE6B | Missense point mutation in exon 16 of the beta‐subunit of rod phosphodiesterase gene, (PDE6B) | 9 | ||
| Rpe65−/− | RPE65 | Rpe65‐deficient (KO) | 24 | ||
| Sema4A‐deficient | Sema4A | Sema4A‐deficient | 25 | ||
| Sema4A F350C | Sema4A | Knock‐in mouse lines with corresponding mutations (F350C) in the Sema4A gene | 25 | ||
| Rat | Natural | RCS | MERTK | Small deletion of RCS DNA that disrupts the gene encoding the receptor tyrosine kinase Mertk | 26 |
| Transgenic | P23H | Rhodopsin | Transgenic rat that express P23H rhodopsin | 27 | |
| S334ter | Rhodopsin | Rhodopsin mutation S334ter | 28 | ||
| Chickens | Natural | Rd | GC1 | Null mutation in the photoreceptor guanylate cyclase (GC1) gene | 29 |
| Rdd | PDE6A | Mutation in PDE6A | 30 | ||