Disease Term | Human Homologs | Mouse Homologs | Mouse Models | Homology Source | |||
![]() ![]() | Charcot-Marie-Tooth disease axonal type 2K | GDAP1* | Gdap1* | 1 model | Alliance of Genome Resources | ||
Charcot-Marie-Tooth disease axonal type 2O | DYNC1H1* | Dync1h1* | 1 model | Alliance of Genome Resources | |||
Charcot-Marie-Tooth disease axonal type 2P | LRSAM1* | Lrsam1* | 1 model | Alliance of Genome Resources | |||
Charcot-Marie-Tooth disease axonal type 2Q | DHTKD1* | Dhtkd1* | 2 models | Alliance of Genome Resources | |||
Charcot-Marie-Tooth disease axonal type 2S | IGHMBP2* | Ighmbp2* | 2 models | Alliance of Genome Resources | |||
Charcot-Marie-Tooth disease axonal type 2Z | MORC2* | Morc2a*, Morc2b | 1 model | Alliance of Genome Resources | |||
Charcot-Marie-Tooth disease dominant intermediate C | YARS1* | Yars1* | 1 model | Alliance of Genome Resources | |||
Charcot-Marie-Tooth disease recessive intermediate D | COX6A1* | Cox6a1* | 1 model | Alliance of Genome Resources | |||
Charcot-Marie-Tooth disease type 1A | PMP22* | Pmp22* | 6 models | Alliance of Genome Resources | |||
Charcot-Marie-Tooth disease type 1B | MPZ* | Mpz* | 10 models | Alliance of Genome Resources | |||
Charcot-Marie-Tooth disease type 1C | LITAF* | Litaf* | 1 model | Alliance of Genome Resources | |||
Charcot-Marie-Tooth disease type 1E | PMP22* | Pmp22* | 1 model | Alliance of Genome Resources | |||
Charcot-Marie-Tooth disease type 2A1 | KIF1B* | Kif1b* | 1 model | Alliance of Genome Resources | |||
Charcot-Marie-Tooth disease type 2A2A | MFN2* | Mfn2* | 1 model | Alliance of Genome Resources | |||
Charcot-Marie-Tooth disease type 2B | RAB7A* | Rab7* | 1 model | Alliance of Genome Resources | |||
Charcot-Marie-Tooth disease type 2B1 | LMNA* | Lmna* | 1 model | Alliance of Genome Resources | |||
Charcot-Marie-Tooth disease type 2D | GARS1* | Gars1* | 4 models | Alliance of Genome Resources | |||
Charcot-Marie-Tooth disease type 2E | NEFL* | Nefl* | 1 model | Alliance of Genome Resources | |||
Charcot-Marie-Tooth disease type 3 | MPZ* | Mpz* | 3 models | Alliance of Genome Resources | |||
Charcot-Marie-Tooth disease type 3 | PMP22* | Pmp22* | 1 model | Alliance of Genome Resources | |||
Charcot-Marie-Tooth disease type 4B1 | MTMR2* | Mtmr2* | 2 models | Alliance of Genome Resources | |||
Charcot-Marie-Tooth disease type 4B2 | SBF2* | Sbf2* | 2 models | Alliance of Genome Resources | |||
Charcot-Marie-Tooth disease type 4B3 | SBF1* | Sbf1* | 1 model | Alliance of Genome Resources | |||
Charcot-Marie-Tooth disease type 4C | SH3TC2* | Sh3tc2* | 1 model | Alliance of Genome Resources | |||
Charcot-Marie-Tooth disease type 4D | NDRG1* | Ndrg1* | 2 models | Alliance of Genome Resources | |||
Charcot-Marie-Tooth disease type 4E | EGR2* | Egr2* | 2 models | Alliance of Genome Resources | |||
Charcot-Marie-Tooth disease type 4H | FGD4* | Fgd4* | 1 model | Alliance of Genome Resources | |||
Charcot-Marie-Tooth disease type 4J | FIG4* | Fig4* | 2 models | Alliance of Genome Resources | |||
Charcot-Marie-Tooth disease X-linked dominant 1 | GJB1* | Gjb1* | 4 models | Alliance of Genome Resources | |||
congenital myasthenic syndrome 10 | DOK7* | Dok7* | 1 model | Alliance of Genome Resources | |||
congenital myasthenic syndrome 11 | RAPSN* | Rapsn* | 1 model | Alliance of Genome Resources | |||
congenital myasthenic syndrome 12 | GFPT1* | Gfpt1* | 1 model | Alliance of Genome Resources | |||
congenital myasthenic syndrome 19 | COL13A1* | Col13a1* | 1 model | Alliance of Genome Resources | |||
congenital myasthenic syndrome 3A | CHRND* | Chrnd* | 1 model | Alliance of Genome Resources | |||
congenital myasthenic syndrome 4A | CHRNE* | Chrne* | 2 models | Alliance of Genome Resources | |||
congenital myasthenic syndrome 4C | CHRNE* | Chrne* | 1 model | Alliance of Genome Resources | |||
congenital myasthenic syndrome 5 | COLQ* | Colq* | 1 model | Alliance of Genome Resources | |||
congenital myasthenic syndrome 6 | CHAT* | Chat* | 2 models | Alliance of Genome Resources | |||
congenital myasthenic syndrome 8 | AGRN* | Agrn* | 1 model | Alliance of Genome Resources | |||
congenital myasthenic syndrome 9 | MUSK* | Musk* | 3 models | Alliance of Genome Resources | |||
![]() | Charcot-Marie-Tooth disease intermediate type | CFAP276 | Cfap276* | 2 models | Alliance of Genome Resources | ||
Charcot-Marie-Tooth disease type 6 | SLC25A46 | Slc25a46* | 1 model | Alliance of Genome Resources | |||
Lambert-Eaton myasthenic syndrome | CACNA1A | Cacna1a* | 1 model | Alliance of Genome Resources | |||
neuromuscular disease | NEMF | Nemf* | 3 models | Alliance of Genome Resources | |||
![]() | Brody myopathy | ATP2A1* | Atp2a1 | Alliance of Genome Resources | |||
Charcot-Marie-Tooth disease | PMP22* | Pmp22 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease | GDAP1* | Gdap1 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease | ITPR3* | Itpr3 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease | JAG1* | Jag1 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease | NRG1* | Nrg1 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease | MFN2* | Mfn2 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease | FBLN5* | Fbln5 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease | MPZ* | Mpz | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease | CADM3* | Cadm3 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease | NEFL* | Nefl | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease | SLC12A6* | Slc12a6 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease | POLR3B* | Polr3b | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease axonal type 2C | GDAP1* | Gdap1 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease axonal type 2C | TRPV4* | Trpv4 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease axonal type 2CC | NEFH* | Nefh | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease axonal type 2F | HSPB1* | Hspb1 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease axonal type 2K | JPH1* | Jph1 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease axonal type 2L | HSPB8* | Hspb8 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease axonal type 2N | AARS1* | Aars1 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease axonal type 2T | MME* | Mme | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease axonal type 2U | MARS1* | Mars1 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease axonal type 2V | NAGLU* | Naglu | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease, axonal type 2W | HARS1* | Hars1 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease axonal type 2X | SPG11* | Spg11 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease dominant intermediate A | GBF1* | Gbf1 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease dominant intermediate B | DNM2* | Dnm2 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease dominant intermediate D | MPZ* | Mpz | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease dominant intermediate E | INF2* | Inf2 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease dominant intermediate F | GNB4* | Gnb4 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease dominant intermediate G | NEFL* | Nefl | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease recessive intermediate A | GDAP1* | Gdap1 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease recessive intermediate B | KARS1* | Kars1 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease recessive intermediate C | PLEKHG5* | Plekhg5 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease type 1D | EGR2* | Egr2 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease type 1F | NEFL* | Nefl | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease type 1G | PMP2* | Pmp2 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease type 2A2B | MFN2* | Mfn2 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease type 2B2 | PNKP* | Pnkp | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease type 2DD | ATP1A1* | Atp1a1 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease type 2EE | MPV17* | Mpv17 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease type 2I | MPZ* | Mpz | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease type 2J | MPZ* | Mpz | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease type 2R | TRIM2* | Trim2 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease type 2Y | VCP* | Vcp | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease type 3 | PRX* | Prx | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease type 3 | EGR2* | Egr2 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease type 4A | GDAP1* | Gdap1 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease type 4F | PRX* | Prx | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease type 4G | HK1* | Hk1 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease type 4K | SURF1* | Surf1 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease type 6 | MFN2* | Mfn2 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease X-linked dominant 6 | PDK3* | Pdk3 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease X-linked recessive 4 | AIFM1* | Aifm1 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease X-linked recessive 5 | PRPS1* | Prps1 | Alliance of Genome Resources | ||||
congenital myasthenic syndrome | VAMP1* | Vamp1 | Alliance of Genome Resources | ||||
congenital myasthenic syndrome | MYO9A* | Myo9a | Alliance of Genome Resources | ||||
congenital myasthenic syndrome | SLC25A1* | Slc25a1 | Alliance of Genome Resources | ||||
congenital myasthenic syndrome | CHRNE* | Chrne | Alliance of Genome Resources | ||||
congenital myasthenic syndrome | SYT2* | Syt2 | Alliance of Genome Resources | ||||
congenital myasthenic syndrome 13 | DPAGT1* | Dpagt1 | Alliance of Genome Resources | ||||
congenital myasthenic syndrome 14 | ALG2* | Alg2 | Alliance of Genome Resources | ||||
congenital myasthenic syndrome 15 | ALG14* | Alg14 | Alliance of Genome Resources | ||||
congenital myasthenic syndrome 16 | SCN4A* | Scn4a | Alliance of Genome Resources | ||||
congenital myasthenic syndrome 17 | LRP4* | Lrp4 | Alliance of Genome Resources | ||||
congenital myasthenic syndrome 18 | SNAP25* | Snap25 | Alliance of Genome Resources | ||||
congenital myasthenic syndrome 1A | CAST* | Cast | Alliance of Genome Resources | ||||
congenital myasthenic syndrome 1A | CHRNA1* | Chrna1 | Alliance of Genome Resources | ||||
congenital myasthenic syndrome 1B | CHRNA1* | Chrna1 | Alliance of Genome Resources | ||||
congenital myasthenic syndrome 20 | SLC5A7* | Slc5a7 | Alliance of Genome Resources | ||||
congenital myasthenic syndrome 21 | SLC18A3* | Slc18a3 | Alliance of Genome Resources | ||||
congenital myasthenic syndrome 22 | PREPL* | Prepl | Alliance of Genome Resources | ||||
congenital myasthenic syndrome 2A | CHRNB1* | Chrnb1 | Alliance of Genome Resources | ||||
congenital myasthenic syndrome 2C | CHRNB1* | Chrnb1 | Alliance of Genome Resources | ||||
congenital myasthenic syndrome 3B | CHRND* | Chrnd | Alliance of Genome Resources | ||||
congenital myasthenic syndrome 3C | CHRND* | Chrnd | Alliance of Genome Resources | ||||
congenital myasthenic syndrome 4B | CHRNE* | Chrne | Alliance of Genome Resources | ||||
congenital myasthenic syndrome 7 | SYT2* | Syt2 | Alliance of Genome Resources | ||||
Lambert-Eaton myasthenic syndrome | CHRM1* | Chrm1 | Alliance of Genome Resources | ||||
Lambert-Eaton myasthenic syndrome | CACNA1B* | Cacna1b | Alliance of Genome Resources | ||||
neuromuscular disease | GPI* | Gpi1 | Alliance of Genome Resources | ||||
paramyotonia congenita of Von Eulenburg | SCN4A* | Scn4a | Alliance of Genome Resources |
Transgenes and other genome features developed in mice to model this disease.
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Disease Term | Transgenes and Other Genome Features | Mouse Models | |
Charcot-Marie-Tooth disease axonal type 2F | Tg(Thy1-HSPB1*S135F)#Lvdb | 1 model | |
Charcot-Marie-Tooth disease type 1A | Tg(PMP22)C61Clh | 1 model | |
Charcot-Marie-Tooth disease type 1A | Tg(Pmp22)247Ueli | 1 model | |
Charcot-Marie-Tooth disease type 1A | Tg(PMP22)C3Fbas | 1 model | |
Charcot-Marie-Tooth disease type 1A | Tg(PMP22)C22Clh | 1 model | |
Charcot-Marie-Tooth disease type 1A | Tg(Pmp22)My41Clh | 1 model | |
Charcot-Marie-Tooth disease type 1A | Tg(tetO/CMV-Pmp22)JP18Clh | 1 model | |
Charcot-Marie-Tooth disease type 1B | Tg(Mpz)88.4Mfel | 1 model | |
Charcot-Marie-Tooth disease type 1B | Tg(Mpz)88.2Mfel | 1 model | |
Charcot-Marie-Tooth disease type 1B | Tg(Mpz)88.1Mfel | 1 model | |
Charcot-Marie-Tooth disease type 1B | Tg(Mpz*S63X)31Mes | 2 models | |
Charcot-Marie-Tooth disease type 1B | Tg(Mpz*S63X)30Mes | 1 model | |
Charcot-Marie-Tooth disease type 1C | Tg(CMV-LITAF*W116G)#Lli | 1 model | |
Charcot-Marie-Tooth disease type 2A2A | Tg(Mnx1-Mfn2*T105M,-EGFP)1Dcc | 1 model | |
Charcot-Marie-Tooth disease type 2A2A | Tg(Eno2-MFN2*R94Q)L87Ugfm | 1 model | |
Charcot-Marie-Tooth disease type 2A2A | Tg(Eno2-MFN2*R94Q)L51Ugfm | 2 models | |
Charcot-Marie-Tooth disease type 2E | Tg(tetO-NEFL)173.2Jpj | 1 model | |
Charcot-Marie-Tooth disease type 2E | Tg(NEFL*E397K)1Milg | 1 model | |
Charcot-Marie-Tooth disease type 3 | Tg(Mpz*S63C)33Mes | 1 model | |
Charcot-Marie-Tooth disease type 3 | Tg(Mpz*S63C)32Mes | 1 model | |
Charcot-Marie-Tooth disease type 4J | Tg(ACTB-Fig4*I41T)705Mm | 1 model | |
congenital myasthenic syndrome 3A | Tg(Ckm-Chrnd*S262T)40Cgz | 1 model | |
congenital myasthenic syndrome 4A | Tg(Ckm-Chrne*L269F)5Cgz | 1 model |