Table 1.
Rat strains with associated developmental disease terms are listed with curated disease terms, official strain symbols and the known disease genes/alleles with representative references. The downloaded strain data are processed by selecting non-redundant disease annotations with manual evidence codes. The associated alleles not included in the downloaded file can be found on the strain report pages
| Disease term | Disease ID | Official strain symbol | Rat strain RGD ID | Disease-associated gene | Reference | ||
|---|---|---|---|---|---|---|---|
| Parent gene | Mutant allele | PMID | RGD ID | ||||
| Albinism | DOID:9001386 | DA-Tyr em1Kyo | 8552298 | Tyr | Tyrem1Kyo | 23409244 | 12792973 |
| Amelogenesis imperfecta | DOID:2187 | WT/Jtt | 2303759 | Unknown | Unknown | 17710440 | 2303758 |
| Ataxia telangiectasia | DOID:12704 | F344-Atm em1Kyo | 12879400 | Atm | Atmem1Kyo | 28007901 | 12879399 |
| Attention deficit disorder with hyperactivity | DOID:1094 | Wig/Ymas | 4891165 | Unknown | Unknown | 17610585 | 4891167 |
| Autism spectrum disorder | DOID:0060041 | SD-Nlgn3 em1Sage | 11568700 | Nlgn3 | Nlgn3em1Sage | 24773431 | 9831152 |
| SD-Fmr1 em1Sage | 11568040 | Fmr1 | Fmr1em1Sage | 24773431 | 9831152 | ||
| Canavan disease | DOID:3613 | TRM/Kyo | 1302702 | Aspa | Deletion | 10820213 | 628404 |
| Hypertrophic cardiomyopathy | DOID:11984 | SS-Chr 16BN/Mcwi | 629524 | Unknown | Unknown | 17204904 | 1598977 |
| Charcot–Marie–Tooth disease | DOID:10595 | SD-Tg(Pmp22)Kan | 2312447 | Mouse Pmp22 | n/a | 8630243 | 2312445 |
| Cryptorchidism | DOID:11383 | SS-Adamts16 em1Bj | 13437612 | Adamts16 | Adamts16em1Bj | 24983376 | 13434925 |
| KH | 2301330 | Unknown | Unknown | 6140035 | 2301322 | ||
| LE/OrlBarth | 10047391 | Unknown | Unknown | 26502805 | 12911229 | ||
| SDLEF7/Barth | 10047393 | Unknown | Unknown | 26502805 | 12911229 | ||
| Dwarfism | DOID:9007661 | SDR/Slc | 1302698 | Gh1 | Gh1sdr | 2752987 | 1578505 |
| WIC-Tg rdw /Kts | 2304039 | Tg | Tgrdw | 11089535 | 730133 | ||
| Gray platelet syndrome | DOID:0111044 | WF/NHsd | 737908 | Unknown | Unknown | 2040691 | 11531117 |
| SD/Novo-F8 em1Sage−/− | 11531091 | F8 | F8em1Sage | 24931420 | 11530071 | ||
| Hemophilia A | DOID:12134 | WAG-F8 m1Ycb | 2314904 | F8 | F8m1Ycb | 20626616 | 7245964 |
| Hermansky–Pudlak syndrome | DOID:3753 | TM/Kyo | 1302623 | Rab38 | Rab38ru | 15112108 | 1300411 |
| FHH | 60993 | Rab38 | Rab38ru | 15112108 | 1300411 | ||
| Learning disorders | DOID:8927 | SS.SR-(D17Rat24-rs106534785) /Opaz | 7401201 | Unknown | Unknown | 23469157 | 7394833 |
| Megacolon and its children | DOID:11372 | AR-Ednrbsl/Hkv | 6480218 | Ednrb | Ednrbsl | 22132166 | 6480215 |
| LE/Hkv.AR-Ednrb sl | 6480220 | Ednrb | Ednrbsl | 21915282 | 6480217 | ||
| F344.AR-Ednrbsl /Hkv | 6480223 | Ednrb | Ednrbsl | 22132166 | 6480215 | ||
| Sl | 629492 | Ednrb | Ednrbsl | 8589685 | 1342447 | ||
| Microcephaly | DOID:10907 | WI-Cit fhJjlo /Rrrc | 6482243 | Cit | CitfhJjlo | 10219263 | 13204836 |
| Microphthalmia | DOID:10629 | SHR-Gja8m1Cub | 2293729 | Gja8 | Gja8m1Cub | 18470322 | 2293186 |
| SD-Pax6 Sey /Mce | 2325754 | Pax6 | Pax6Sey | 7981749 | 1601213 | ||
| UPL | Unknown | Unknown | 8282038 | 727242 | |||
| Muscular dystrophy, Duchenne | DOID:11723 | SD-Dmd em1Ang | 12880037 | Dmd | Dmdem1Ang | 25310701 | 12880034 |
| W-Dmd em1Kykn | 10045593 | Dmd | Dmdem1Kykn | 25005781 | 11040981 | ||
| Polydactyly | DOID:1148 | SHR.PD-(D8Rat42-D8Arb23)/Cub | 1641851 | Zbtb16 | Zbtb16Lx | 19191224 | 2312786 |
| Polycystic kidney diseases and its children | DOID:9002730 | SPRD-Anks6 PKD /Rrrc | 1302377 | Anks6 | Anks6PKD | 7933831 | 1300446 |
| PKD | 68118 | Anks6 | Anks6PKD | 9097967 | 629573 | ||
| PKD/Mhm | 11535000 | Anks6 | Anks6PKD | 16207829 | 11534987 | ||
| SD-Tg(hCMV-Anks6PKD)Mhm | 11535031 | Anks6 | Anks6PKD | 21119215 | 7207426 | ||
| PCK-Pkhd1 pck /CrljCrl | 1580542 | Pkhd1 | Pkhd1pck | 11919560 | 70439 | ||
| Retinitis pigmentosa | DOID:10584 | SD-Tg(Rho*P23H)1Lav | 1358298 | Mouse Rho | P23H mutant | 26009893 | 11065783 |