Table 1

Animal models used for emulating CMT disease

CMT subtypeNew classificationGeneMutationAnimal modelTherapies tested for preclinical studiesReference
CMT1A AD-CMTde-PMP22 PMP22 DuplicationTransgenic RatProgesterone antagonist (onapristone), ASO, PXT3003, ADX71441, soluble neuregulin1, A438079 (P2×7 inhibitor), NT-3 19–21 28 34 36 38
CMT1A AD-CMTde-PMP22 PMP22 DuplicationTransgenic mices52
CMT1A AD-CMTde-PMP22 PMP22 DuplicationTransgenic miceAscorbic acid 18 26 27
CMT1A AD-CMTde-PMP22 PMP22 DuplicationTransgenic miceASO 38, S53
CMT1A AD-CMTde-PMP22 PMP22 DuplicationTransgenic mice; Mouse transgenes54
CMT1A AD-CMTde-PMP22 PMP22 DuplicationConditional transgenic mices55
CMT1B AD-CMTde-MPZ MPZ Null mutationTransgenic mice
NaV1.8 blocker 16, s15, s56
CMT1B AD-CMTde-MPZ MPZ Ile106LeuTransgenic P0sub mices57
CMT1B AD-CMTde-MPZ MPZ S63delTransgenic P0S63del miceChop ablation,
Sephin 1
s1, s58, s59
CMT1B AD-CMTde-MPZ MPZ R98CKnock-in R98C miceChop ablation,
Curcumin derivatives
s60, s61
CMT1C AD-CMTde-LITAF LITAF T115NKnock-in and knock-out mices62
CMT1C AD-CMTde-LITAF LITAF W116GTransgenic mices63
CMT1D AD-CMTde-EGR2 EGR2 Null mutationTransgenic EGR2/KROX20−/− mices64, s65
CMT1E AD-CMTde-PMP22 PMP22 G150DTr mices66
CMT1E AD-CMTde-PMP22 PMP22 L16PTr-J miceNT-3, Rapamycin, Curcumin, ACE-083s18, s66, s67
CMT1E AD-CMTde-PMP22 PMP22 Exon IV deletionTr-Ncnps68
CMT1E AD-CMTde-PMP22 PMP22 H12R and Y153XTr_m1H and Tr_m2Hs69
CMT2A AD-CMTax-MFN2 MFN2 R94QTransgenic MitoCharc mices44
CMT2A AD-CMTax-MFN2 MFN2 R94WTransgenic mices70
CMT2A AD-CMTax-MFN2 MFN2 T105MTransgenic mices47
CMT2A AD-CMTax-MFN2 MFN2 T105MSTOP-MFN2 knock-in miceMFN2 agonistss12, s46
CMT2A AD-CMTax-MFN2 MFN2 R364WKnock-in Rat s71
CMT2A1 AD-CMTax-KIF1B KIF1B P-loop deletion Kif1B +/− Knock-out mices72
CMT2B1 AR- CMTax-LMNA LMNA R298CKnock-in mices73
CMT2D AD-CMTax-GARS GARS P278KY Gars Nmf249/+ miceVEGF, AAV-RNAi gene therapy, HDAC6 inhibitorss7, s10, s74
CMT2D AD-CMTax-GARS GARS C201R Gars C201R miceAAV-RNAi gene therapy
HDAC6 inhibitors
s8, s75
CMT2D AD-CMTax-GARS GARS G240RAdhGARSG240R AAV-RNAi gene therapys76
CMT2E AD-CMTax-NEFL NEFL P8R, N98SKnock-in mices43
CMT2E AD-CMTax-NEFL NEFL P22ShNF-L double transgenic mices77
CMT2E AD-CMTax-NEFL NEFL E397KhNF-L transgenic mices78
CMT2F/dHMN-II AD-CMTax-HSPB1 HSPB1 S135F and P182LTransgenic miceHDAC6 inhibitors 23
CMT2F/dHMN-II AD-CMTax-HSPB1 HSPB1 S135FTransgenic mices79
CMT2F/dHMN-II AD-CMTax-HSPB1 HSPB1 R127W, P182LTransgenic mices80
CMT2F/dHMN-II AD-CMTax-HSPB1 HSPB1 R136WTransgenic PrP-HSPB1 mices81
CMT2K AR-CMTax-GDAP1 GDAP1 Exon 1 deletion Gdap1 -/- mice s82
CMT4A AR-CMTde-GDAP1 GDAP1 Exon 5 deletion Gdap1-/- mices83
CMT2I/J AD-CMTax-MPZ MPZ T124MKnock-in miceongoing
CMT2L AD-CMTax-HSPB8 HSPB8 K141NKnock-in mices50
CMT2L AD-CMTax-HSPB8 HSPB8 K141NTransgenic mices84
CMT2L AD-CMTax-HSPB8 HSPB8 K141NTransgenic mices85
CMT2P AD/AR- CMTax-LRSAM1 LRSAM1 RRK239, RRK461 Null mutation Lrsam1 mutant mices87
CMT2Q AD-CMTax-DHTKD1 DHTKD1 Tyr486 mutationKnock-in mices88
CMT2R AR- CMTax-TRIM2 TRIM2 gene trap vector insertion Trim2GT knock-out mices89
DI-CMTC AD-CMTin-YARS YARS E196K mutationAdhYARSE196K/ChAT mices90
CMTX1 XL-CMTin-GJB GJB/ Cx32 G12S, S26LTransgenic miceCamKII inhibitorss91, s92
Exon2 deletion Gjb1tm1Kwi knock-out miceIntrathecal Vector Deliverys93, s94
  • ASO, antisense oligonucleotide; CMT, Charcot-Marie-Tooth; VEGF, vascular endothelial growth factor.