Disease Term | Human Homologs | Mouse Homologs | Mouse Models | Homology Source | |||
Joubert syndrome 17 | CPLANE1* | Cplane1* | 1 model | Alliance of Genome Resources | |||
Joubert syndrome 26 | KATNIP* | Katnip* | 1 model | Alliance of Genome Resources | |||
Joubert syndrome 3 | AHI1* | Ahi1* | 1 model | Alliance of Genome Resources | |||
Joubert syndrome 5 | CEP290* | Cep290* | 2 models | Alliance of Genome Resources | |||
Joubert syndrome 6 | TMEM67* | Tmem67* | 1 model | Alliance of Genome Resources | |||
Joubert syndrome 7 | RPGRIP1L* | Rpgrip1l* | 1 model | Alliance of Genome Resources | |||
Kartagener syndrome | DNAH11* | Dnah11* | 2 models | Alliance of Genome Resources | |||
Kartagener syndrome | DNAI1* | Dnai1* | 1 model | Alliance of Genome Resources | |||
Kartagener syndrome | DNAH5* | Dnah5* | 12 models | Alliance of Genome Resources | |||
Meckel syndrome | B9D1* | B9d1* | 1 model | Alliance of Genome Resources | |||
primary ciliary dyskinesia | DAW1* | Daw1* | 2 models | Alliance of Genome Resources | |||
primary ciliary dyskinesia 1 | DNAI1* | Dnai1* | 3 models | Alliance of Genome Resources | |||
primary ciliary dyskinesia 10 | DNAAF2* | Dnaaf2* | 2 models | Alliance of Genome Resources | |||
primary ciliary dyskinesia 14 | CCDC39* | Ccdc39* | 3 models | Alliance of Genome Resources | |||
primary ciliary dyskinesia 19 | DNAAF11* | Dnaaf11* | 1 model | Alliance of Genome Resources | |||
primary ciliary dyskinesia 2 | DNAAF3* | Dnaaf3* | 1 model | Alliance of Genome Resources | |||
primary ciliary dyskinesia 21 | DRC1* | Drc1* | 2 models | Alliance of Genome Resources | |||
primary ciliary dyskinesia 22 | ZMYND10* | Zmynd10* | 1 model | Alliance of Genome Resources | |||
primary ciliary dyskinesia 23 | ODAD2* | Odad2* | 2 models | Alliance of Genome Resources | |||
primary ciliary dyskinesia 25 | DNAAF4* | Dnaaf4* | 1 model | Alliance of Genome Resources | |||
primary ciliary dyskinesia 3 | DNAH5* | Dnah5* | 14 models | Alliance of Genome Resources | |||
primary ciliary dyskinesia 30 | ODAD3* | Odad3* | 2 models | Alliance of Genome Resources | |||
primary ciliary dyskinesia 33 | GAS8* | Gas8* | 2 models | Alliance of Genome Resources | |||
primary ciliary dyskinesia 35 | ODAD4* | Odad4* | 1 model | Alliance of Genome Resources | |||
primary ciliary dyskinesia 7 | DNAH11* | Dnah11* | 8 models | Alliance of Genome Resources | |||
ciliopathy | SCLT1 | Sclt1* | 1 model | Alliance of Genome Resources | |||
ciliopathy | SPRY2 | Spry2* | 3 models | Alliance of Genome Resources | |||
ciliopathy | WDR11 | Wdr11* | 1 model | Alliance of Genome Resources | |||
ciliopathy | WDR19 | Wdr19* | 1 model | Alliance of Genome Resources | |||
ciliopathy | KIF7 | Kif7* | 1 model | Alliance of Genome Resources | |||
Joubert syndrome | ZIC1 | Zic1* | 1 model | Alliance of Genome Resources | |||
Kartagener syndrome | DNAAF3 | Dnaaf3* | 1 model | Alliance of Genome Resources | |||
Kartagener syndrome | AP1B1 | Ap1b1* | 1 model | Alliance of Genome Resources | |||
Kartagener syndrome | b2b1200Clo* | 1 model | |||||
Kartagener syndrome | b2b1519Clo* | 1 model | |||||
Kartagener syndrome | b2b1700Clo* | 1 model | |||||
Kartagener syndrome | b2b2350Clo* | 1 model | |||||
Kartagener syndrome | CCDC39 | Ccdc39* | 2 models | Alliance of Genome Resources | |||
Kartagener syndrome | DAW1 | Daw1* | 2 models | Alliance of Genome Resources | |||
Kartagener syndrome | DNAI2 | Dnai2* | 1 model | Alliance of Genome Resources | |||
Kartagener syndrome | DRC1 | Drc1* | 2 models | Alliance of Genome Resources | |||
Kartagener syndrome | FOXJ1 | Foxj1* | 2 models | Alliance of Genome Resources | |||
Kartagener syndrome | C1orf127 | Gm572* | 1 model | Alliance of Genome Resources | |||
Kartagener syndrome | ODAD2 | Odad2* | 1 model | Alliance of Genome Resources | |||
Kartagener syndrome | ODAD3 | Odad3* | 1 model | Alliance of Genome Resources | |||
Kartagener syndrome | SLIT2 | Slit2* | 1 model | Alliance of Genome Resources | |||
Meckel syndrome | TBC1D32 | Tbc1d32* | 1 model | Alliance of Genome Resources | |||
Meckel syndrome | RPGRIP1L | Rpgrip1l* | 1 model | Alliance of Genome Resources | |||
Meckel syndrome | MKS1 | Mks1* | 3 models | Alliance of Genome Resources | |||
Meckel syndrome | CEP55 | Cep55* | 1 model | Alliance of Genome Resources | |||
Meckel syndrome | CC2D2A | Cc2d2a* | 1 model | Alliance of Genome Resources | |||
Meckel syndrome | TMEM67 | Tmem67* | 2 models | Alliance of Genome Resources | |||
primary ciliary dyskinesia | SPEF2 | Spef2* | 2 models | Alliance of Genome Resources | |||
primary ciliary dyskinesia | b2b227Clo* | 1 model | |||||
primary ciliary dyskinesia | FOXJ1 | Foxj1* | 3 models | Alliance of Genome Resources | |||
primary ciliary dyskinesia | DPCD | Dpcd* | 2 models | Alliance of Genome Resources | |||
primary ciliary dyskinesia | DNAI2 | Dnai2* | 1 model | Alliance of Genome Resources | |||
primary ciliary dyskinesia | DNAH5 | Dnah5* | 1 model | Alliance of Genome Resources | |||
primary ciliary dyskinesia | DNAAF5 | Dnaaf5* | 1 model | Alliance of Genome Resources | |||
primary ciliary dyskinesia | CBY1 | Cby1* | 1 model | Alliance of Genome Resources | |||
primary ciliary dyskinesia | b2b2350Clo* | 1 model | |||||
primary ciliary dyskinesia | b2b2059Clo* | 1 model | |||||
primary ciliary dyskinesia | b2b1929Clo* | 1 model | |||||
primary ciliary dyskinesia | b2b1700Clo* | 1 model | |||||
primary ciliary dyskinesia | b2b1200Clo* | 1 model | |||||
primary ciliary dyskinesia | b2b1146Clo* | 1 model | |||||
primary ciliary dyskinesia | AP1B1 | Ap1b1* | 1 model | Alliance of Genome Resources | |||
primary ciliary dyskinesia | TTLL1 | Ttll1* | 1 model | Alliance of Genome Resources | |||
primary ciliary dyskinesia | SLIT2 | Slit2* | 1 model | Alliance of Genome Resources | |||
primary ciliary dyskinesia | PCSK5 | Pcsk5* | 1 model | Alliance of Genome Resources | |||
primary ciliary dyskinesia | C1orf127 | Gm572* | 1 model | Alliance of Genome Resources | |||
primary ciliary dyskinesia | GAS2L2 | Gas2l2* | 1 model | Alliance of Genome Resources | |||
primary ciliary dyskinesia 14 | b2b2025Clo* | 1 model | |||||
Joubert syndrome | TMEM218* | Tmem218 | Alliance of Genome Resources | ||||
Joubert syndrome | ARL3* | Arl3 | Alliance of Genome Resources | ||||
Joubert syndrome | B9D2* | B9d2 | Alliance of Genome Resources | ||||
Joubert syndrome | FAM149B1* | Fam149b | Alliance of Genome Resources | ||||
Joubert syndrome | IFT74* | Ift74 | Alliance of Genome Resources | ||||
Joubert syndrome | INPP5E* | Inpp5e | Alliance of Genome Resources | ||||
Joubert syndrome | TMEM216* | Tmem216 | Alliance of Genome Resources | ||||
Joubert syndrome | KIAA0753* | 4933427D14Rik | Alliance of Genome Resources | ||||
Joubert syndrome | TMEM237* | Tmem237 | Alliance of Genome Resources | ||||
Joubert syndrome | TOGARAM1* | Togaram1 | Alliance of Genome Resources | ||||
Joubert syndrome 1 | INPP5E* | Inpp5e | Alliance of Genome Resources | ||||
Joubert syndrome 10 | OFD1* | Ofd1 | Alliance of Genome Resources | ||||
Joubert syndrome 13 | TCTN1* | Tctn1 | Alliance of Genome Resources | ||||
Joubert syndrome 14 | TMEM237* | Tmem237 | Alliance of Genome Resources | ||||
Joubert syndrome 15 | CEP41* | Cep41 | Alliance of Genome Resources | ||||
Joubert syndrome 16 | TMEM138* | Tmem138 | Alliance of Genome Resources | ||||
Joubert syndrome 18 | TCTN3* | Tctn3 | Alliance of Genome Resources | ||||
Joubert syndrome 2 | TMEM216* | Tmem216 | Alliance of Genome Resources | ||||
Joubert syndrome 20 | TMEM231* | Tmem231 | Alliance of Genome Resources | ||||
Joubert syndrome 21 | CSPP1* | Cspp1 | Alliance of Genome Resources | ||||
Joubert syndrome 22 | PDE6D* | Pde6d | Alliance of Genome Resources | ||||
Joubert syndrome 23 | KIAA0586* | 2700049A03Rik | Alliance of Genome Resources | ||||
Joubert syndrome 24 | TCTN2* | Tctn2 | Alliance of Genome Resources | ||||
Joubert syndrome 25 | CEP104* | Cep104 | Alliance of Genome Resources | ||||
Joubert syndrome 27 | B9D1* | B9d1 | Alliance of Genome Resources | ||||
Joubert syndrome 28 | MKS1* | Mks1 | Alliance of Genome Resources | ||||
Joubert syndrome 30 | ARMC9* | Armc9 | Alliance of Genome Resources | ||||
Joubert syndrome 31 | CEP120* | Cep120 | Alliance of Genome Resources | ||||
Joubert syndrome 32 | SUFU* | Sufu | Alliance of Genome Resources | ||||
Joubert syndrome 33 | PIBF1* | Pibf1 | Alliance of Genome Resources | ||||
Joubert syndrome 4 | NPHP4* | Nphp4 | Alliance of Genome Resources | ||||
Joubert syndrome 4 | NPHP1* | Nphp1 | Alliance of Genome Resources | ||||
Joubert syndrome 4 | AHI1* | Ahi1 | Alliance of Genome Resources | ||||
Joubert syndrome 8 | ARL13B* | Arl13b | Alliance of Genome Resources | ||||
Joubert syndrome 9 | CC2D2A* | Cc2d2a | Alliance of Genome Resources | ||||
Joubert syndrome with orofaciodigital defect | CPLANE1* | Cplane1 | Alliance of Genome Resources | ||||
Kartagener syndrome | MBL2* | Mbl2 | Alliance of Genome Resources | ||||
Meckel syndrome | TXNDC15* | Txndc15 | Alliance of Genome Resources | ||||
Meckel syndrome | KIF14* | Kif14 | Alliance of Genome Resources | ||||
Meckel syndrome | TMEM231* | Tmem231 | Alliance of Genome Resources | ||||
Meckel syndrome 1 | MKS1* | Mks1 | Alliance of Genome Resources | ||||
Meckel syndrome 13 | TMEM107* | Tmem107 | Alliance of Genome Resources | ||||
Meckel syndrome 2 | TMEM216* | Tmem216 | Alliance of Genome Resources | ||||
Meckel syndrome 3 | TMEM67* | Tmem67 | Alliance of Genome Resources | ||||
Meckel syndrome 4 | CEP290* | Cep290 | Alliance of Genome Resources | ||||
Meckel syndrome 5 | RPGRIP1L* | Rpgrip1l | Alliance of Genome Resources | ||||
Meckel syndrome 6 | CC2D2A* | Cc2d2a | Alliance of Genome Resources | ||||
Meckel syndrome 7 | NPHP3* | Nphp3 | Alliance of Genome Resources | ||||
Meckel syndrome 8 | TCTN2* | Tctn2 | Alliance of Genome Resources | ||||
primary ciliary dyskinesia | BRWD1* | Brwd1 | Alliance of Genome Resources | ||||
primary ciliary dyskinesia | CFAP74* | Cfap74 | Alliance of Genome Resources | ||||
primary ciliary dyskinesia | CLXN* | Clxn | Alliance of Genome Resources | ||||
primary ciliary dyskinesia | DNAH7* | Dnah7a, Dnah7b, Dnah7c | Alliance of Genome Resources | ||||
primary ciliary dyskinesia | NME5* | Nme5 | Alliance of Genome Resources | ||||
primary ciliary dyskinesia | STK36* | Stk36 | Alliance of Genome Resources | ||||
primary ciliary dyskinesia | TP73* | Trp73 | Alliance of Genome Resources | ||||
primary ciliary dyskinesia 11 | RSPH4A* | Rsph4a | Alliance of Genome Resources | ||||
primary ciliary dyskinesia 12 | RSPH9* | Rsph9 | Alliance of Genome Resources | ||||
primary ciliary dyskinesia 13 | DNAAF1* | Dnaaf1 | Alliance of Genome Resources | ||||
primary ciliary dyskinesia 15 | CCDC40* | Ccdc40 | Alliance of Genome Resources | ||||
primary ciliary dyskinesia 16 | DNAL1* | Dnal1 | Alliance of Genome Resources | ||||
primary ciliary dyskinesia 17 | DNAAF19* | Ccdc103 | Alliance of Genome Resources | ||||
primary ciliary dyskinesia 18 | DNAAF5* | Dnaaf5 | Alliance of Genome Resources | ||||
primary ciliary dyskinesia 20 | ODAD1* | Odad1 | Alliance of Genome Resources | ||||
primary ciliary dyskinesia 24 | RSPH1* | Rsph1 | Alliance of Genome Resources | ||||
primary ciliary dyskinesia 26 | CFAP298* | Cfap298 | Alliance of Genome Resources | ||||
primary ciliary dyskinesia 27 | CCDC65* | Ccdc65 | Alliance of Genome Resources | ||||
primary ciliary dyskinesia 28 | SPAG1* | Spag1 | Alliance of Genome Resources | ||||
primary ciliary dyskinesia 29 | CCNO* | Ccno | Alliance of Genome Resources | ||||
primary ciliary dyskinesia 32 | RSPH3* | Rsph3a, Rsph3b | Alliance of Genome Resources | ||||
primary ciliary dyskinesia 34 | DNAJB13* | Dnajb13 | Alliance of Genome Resources | ||||
primary ciliary dyskinesia 36 | DNAAF6* | Dnaaf6, Dnaaf6rt | Alliance of Genome Resources | ||||
primary ciliary dyskinesia 37 | DNAH1* | Dnah1 | Alliance of Genome Resources | ||||
primary ciliary dyskinesia 38 | CFAP300* | Cfap300 | Alliance of Genome Resources | ||||
primary ciliary dyskinesia 39 | LRRC56* | Lrrc56 | Alliance of Genome Resources | ||||
primary ciliary dyskinesia 40 | DNAH9* | Dnah9 | Alliance of Genome Resources | ||||
primary ciliary dyskinesia 41 | GAS2L2* | Gas2l2 | Alliance of Genome Resources | ||||
primary ciliary dyskinesia 42 | MCIDAS* | Mcidas | Alliance of Genome Resources | ||||
primary ciliary dyskinesia 43 | FOXJ1* | Foxj1 | Alliance of Genome Resources | ||||
primary ciliary dyskinesia 44 | NEK10* | Nek10 | Alliance of Genome Resources | ||||
primary ciliary dyskinesia 45 | TTC12* | Ttc12 | Alliance of Genome Resources | ||||
primary ciliary dyskinesia 5 | HYDIN* | Hydin | Alliance of Genome Resources | ||||
primary ciliary dyskinesia 6 | NME8* | Nme8 | Alliance of Genome Resources | ||||
primary ciliary dyskinesia 9 | DNAI2* | Dnai2 | Alliance of Genome Resources | ||||
Stromme syndrome | CENPF* | Cenpf | 1 "NOT" model | Alliance of Genome Resources |
Transgenes and other genome features developed in mice to model this disease.
|
|||
Disease Term | Transgenes and Other Genome Features | Mouse Models | |
Meckel syndrome | bpck | 1 model | |
primary ciliary dyskinesia | Del(19Poll-Dcpd)1Nmt | 1 model | |
primary ciliary dyskinesia | Del(1)1Brk | 1 model |