Excel File Text File *Disease is associated/modeled with this Gene or a homolog. More...
      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.
     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)#Milg 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