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All mouse models of neuromuscular disease with phenotypic similarity to the human disease
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| Disease Term | Allelic Composition | Genetic Background | Reference | Phenotypes | ||||
  | Charcot-Marie-Tooth disease axonal type 2K | \Gdap1tm1.2Geno/\Gdap1tm1.2Geno | involves: 129 * C57BL/6 | J:224701 | View | |||
| Charcot-Marie-Tooth disease axonal type 2O | \Dync1h1tm1.1Sjki/\Dync1h1+ | involves: 129 * 129S1/SvImJ * C57BL/6 * C57BL/6J | J:264493 | View | ||||
| Charcot-Marie-Tooth disease axonal type 2P | \Lrsam1Gt(RRK461)Byg/\Lrsam1Gt(RRK461)Byg | involves: 129P2/OlaHsd | J:196447 | View | ||||
| Charcot-Marie-Tooth disease axonal type 2Q | \Dhtkd1tm1Mmgu/\Dhtkd1tm1Mmgu | involves: 129S6/SvEvTac * C57BL/6J | J:288186 | View | ||||
| Charcot-Marie-Tooth disease axonal type 2Q | \Dhtkd1tm1Zgwg/\Dhtkd1tm1Zgwg | involves: C57BL/6 | J:267178 | View | ||||
| Charcot-Marie-Tooth disease axonal type 2S | \Ighmbp2em1Cx/\Ighmbp2em1Cx | C57BL/6J-Ighmbp2em1Cx/Cx | J:337488 | View | ||||
| Charcot-Marie-Tooth disease axonal type 2S | \Ighmbp2em5Cx/\Ighmbp2em5Cx | C57BL/6J-Ighmbp2em5Cx/Cx | J:337488 | View | ||||
| Charcot-Marie-Tooth disease axonal type 2Z | \Morc2aem1Snupy/\Morc2a+ | involves: C57BL/6 | J:341847 | View | ||||
| Charcot-Marie-Tooth disease dominant intermediate C | \Yars1tm1.1Rwb/\Yars1tm1.1Rwb | involves: C57BL/6N * FVB/N | J:310162 | View | ||||
| Charcot-Marie-Tooth disease recessive intermediate D | \Cox6a1tm1(KOMP)Wtsi/\Cox6a1tm1(KOMP)Wtsi | involves: C57BL/6JJcl * C57BL/6N | J:230212 | View | ||||
| Charcot-Marie-Tooth disease type 1A | \Pmp22Tr-2J/\Pmp22+ | C57BL/6J-Pmp22Tr-2J/GrsrJ | J:201866 | View | ||||
| Charcot-Marie-Tooth disease type 1A | \Pmp22Tr-J/\Pmp22+ | B6.Cg-Pmp22Tr-J Krt25Re/+ +/J | J:3394, J:101812 | View | ||||
| Charcot-Marie-Tooth disease type 1A | \Pmp22Tr-J/\Pmp22+ | involves: C57BL/6 | J:3394, J:98231 | View | ||||
| Charcot-Marie-Tooth disease type 1A | \Tg(Pmp22)247Ueli/0 | involves: C3H * C57BL/6 | J:98118 | View | ||||
| Charcot-Marie-Tooth disease type 1A | \Tg(Pmp22)My41Clh/0 | involves: C57BL/6J * CBA/Ca | J:76795 | View | ||||
| Charcot-Marie-Tooth disease type 1A |
\Tg(PMP22-tTA)JY13Clh/0 \Tg(tetO/CMV-Pmp22)JP18Clh/0 |
involves: C57BL/6J * CBA/Ca | J:69545 | View | ||||
| Charcot-Marie-Tooth disease type 1B | \Mpztm1Msch/\Mpz+ | involves: 129S7/SvEvBrd | J:42838 | View | ||||
| Charcot-Marie-Tooth disease type 1B |
\Mpztm1Msch/\Mpz+ \Tg(Mpz*S63X)31Mes/0 |
involves: 129S7/SvEvBrd * FVB/N | J:105751 | View | ||||
| Charcot-Marie-Tooth disease type 1B | \Mpztm1Msch/\Mpztm1Msch | involves: 129S7/SvEvBrd | J:42838 | View | ||||
| Charcot-Marie-Tooth disease type 1B | \Mpztm3.1Wra/\Mpz+ | FVB.129S2(Cg)-Mpztm3.1Wra | J:241742 | View | ||||
| Charcot-Marie-Tooth disease type 1B | \Mpztm3.1Wra/\Mpztm3.1Wra | FVB.129S2(Cg)-Mpztm1.1Wra | J:241742 | View | ||||
| Charcot-Marie-Tooth disease type 1B | \Tg(Mpz)88.1Mfel/0 | FVB/N-Tg(Mpz)88.1Mfel | J:77658 | View | ||||
| Charcot-Marie-Tooth disease type 1B | \Tg(Mpz)88.2Mfel/0 | FVB/N-Tg(Mpz)88.2Mfel | J:77658 | View | ||||
| Charcot-Marie-Tooth disease type 1B | \Tg(Mpz)88.4Mfel/0 | FVB/N-Tg(Mpz)88.4Mfel | J:77658 | View | ||||
| Charcot-Marie-Tooth disease type 1B | \Tg(Mpz*S63X)30Mes/0 | involves: FVB/N | J:105751 | View | ||||
| Charcot-Marie-Tooth disease type 1B | \Tg(Mpz*S63X)31Mes/0 | involves: FVB/N | J:105751 | View | ||||
| Charcot-Marie-Tooth disease type 1C | \Litaftm1.1Cwc/\Litaftm1.1Cwc | B6.Cg-Litaftm1.1Cwc | J:314784 | View | ||||
| Charcot-Marie-Tooth disease type 1E | \Pmp22Tr-2J/\Pmp22+ | C57BL/6J-Pmp22Tr-2J/GrsrJ | J:201866 | View | ||||
| Charcot-Marie-Tooth disease type 2A1 | \Kif1btm1Noh/\Kif1b+ | involves: 129S4/SvJae * C57BL/6J | J:69772 | View | ||||
| Charcot-Marie-Tooth disease type 2A2A | \Tg(Mnx1-Mfn2*T105M,-EGFP)1Dcc/\Tg(Mnx1-Mfn2*T105M,-EGFP)1Dcc | Not Specified | J:132035 | View | ||||
| Charcot-Marie-Tooth disease type 2B | \Rab7em2Rwb/\Rab7+ | C57BL/6J-Rab7em2Rwb/RwbJ | J:346904 | View | ||||
| Charcot-Marie-Tooth disease type 2B1 | \Lmnatm1Stw/\Lmnatm1Stw | involves: 129S1/Sv | J:75378 | View | ||||
| Charcot-Marie-Tooth disease type 2D | \Gars1C201R/\Gars1+ | involves: BALB/cAnN * C3H/HeH * C57BL/6J | J:149830, J:179811 | View | ||||
| Charcot-Marie-Tooth disease type 2D | \Gars1em1Rwb/\Gars1em2Rwb | involves: C57BL/6NJ * FVB/NJ | J:284948 | View | ||||
| Charcot-Marie-Tooth disease type 2D | \Gars1Nmf249/\Gars1+ | C57BL/6J-Gars1Nmf249/J | J:112221 | View | ||||
| Charcot-Marie-Tooth disease type 2D | \Gars1Nmf249/\Gars1+ | involves: C57BL/6J * CAST/Ei | J:179811 | View | ||||
| Charcot-Marie-Tooth disease type 2E | \Nefltm2.1Liem/\Nefl+ | B6.Cg-Nefltm2.1Liem | J:220605 | View | ||||
| Charcot-Marie-Tooth disease type 3 | \Mpztm1Msch/\Mpztm1Msch | involves: 129S7/SvEvBrd | J:42838 | View | ||||
| Charcot-Marie-Tooth disease type 3 | \Pmp22Tr-2J/\Pmp22+ | C57BL/6J-Pmp22Tr-2J/GrsrJ | J:201866 | View | ||||
| Charcot-Marie-Tooth disease type 3 | \Tg(Mpz*S63C)32Mes/0 | involves: FVB/N | J:105751 | View | ||||
| Charcot-Marie-Tooth disease type 3 | \Tg(Mpz*S63C)33Mes/0 | involves: FVB/N | J:105751 | View | ||||
| Charcot-Marie-Tooth disease type 4B1 | \Mtmr2tm1.1Abol/\Mtmr2tm1.1Abol | involves: 129S2/SvPas | J:94373 | View | ||||
| Charcot-Marie-Tooth disease type 4B1 | \Mtmr2tm1Ueli/\Mtmr2tm1Ueli | involves: 129S6/SvEvTac * C57BL/6 | J:104120 | View | ||||
| Charcot-Marie-Tooth disease type 4B2 | \Sbf2Gt(RRF511)Byg/\Sbf2Gt(RRF511)Byg | involves: 129P2/OlaHsd * C57BL/6 | J:133391 | View | ||||
| Charcot-Marie-Tooth disease type 4B2 | \Sbf2Gt(XH212)Byg/\Sbf2Gt(XH212)Byg | involves: 129P2/OlaHsd * C57BL/6 | J:133042 | View | ||||
| Charcot-Marie-Tooth disease type 4B3 | \Sbf1em1Frobi/\Sbf1em1Frobi | C57BL/6N-Sbf1em1Frobi | J:326685 | View | ||||
| Charcot-Marie-Tooth disease type 4C | \Sh3tc2tm1.1Rchr/\Sh3tc2tm1.1Rchr | involves: 129/Sv * FVB/N | J:153705 | View | ||||
| Charcot-Marie-Tooth disease type 4D | \Ndrg1em1Lxli/\Ndrg1em1Lxli | C57BL/6N-Ndrg1em1Lxli | J:330126 | View | ||||
| Charcot-Marie-Tooth disease type 4D | \Ndrg1tm1Myta/\Ndrg1tm1Myta | involves: 129S1/Sv * 129X1/SvJ * C57BL/6 | J:89888 | View | ||||
| Charcot-Marie-Tooth disease type 4E | \Egr2tm1Jmi/\Egr2tm1Jmi | Not Specified | J:96641 | View | ||||
| Charcot-Marie-Tooth disease type 4E | \Egr2tm2Jmi/\Egr2tm2Jmi | B6.Cg-Egr2tm2Jmi | J:145949 | View | ||||
| Charcot-Marie-Tooth disease type 4H | \Fgd4tm1.1Ics/\Fgd4tm1.1Ics | Not Specified | J:190437 | View | ||||
| Charcot-Marie-Tooth disease type 4J | \Fig4plt1/\Fig4plt1 | involves: 129P2/OlaHsd * C3H * C57BL/6 * CAST/Ei * SJL | J:122737 | View | ||||
| Charcot-Marie-Tooth disease type 4J |
\Fig4plt1/\Fig4plt1 \Tg(ACTB-Fig4*I41T)705Mm/0 |
involves: 129 * C3H * C57BL/6J * CAST/Ei * SJL | J:173446 | View | ||||
| Charcot-Marie-Tooth disease X-linked dominant 1 | \Gjb1em1Ckab/Y | C57BL/6-Gjb1em1Ckab | J:350504 | View | ||||
| Charcot-Marie-Tooth disease X-linked dominant 1 | \Gjb1em2Ckab/Y | C57BL/6-Gjb1em2Ckab | J:350504 | View | ||||
| Charcot-Marie-Tooth disease X-linked dominant 1 | \Gjb1tm1Kwi/\Gjb1tm1Kwi | involves: 129S4/SvJae | J:40955 | View | ||||
| Charcot-Marie-Tooth disease X-linked dominant 1 | \Gjb1tm1Kwi/\Gjb1tm1Kwi | involves: 129S4/SvJae * C57BL/6 | J:36146 | View | ||||
| Charcot-Marie-Tooth disease X-linked dominant 1 | \Gjb1tm1Kwi/Y | B6.129S4-Gjb1tm1Kwi | J:350504 | View | ||||
| Charcot-Marie-Tooth disease X-linked dominant 1 | \Gjb1tm1Kwi/Y | involves: 129S4/SvJae | J:40955 | View | ||||
| Charcot-Marie-Tooth disease X-linked dominant 1 | \Gjb1tm1Kwi/Y | involves: 129S4/SvJae * C57BL/6 | J:36146 | View | ||||
| congenital myasthenic syndrome 3A | \Tg(Ckm-Chrnd*S262T)40Cgz/0 | involves: C57BL/6 * DBA/2 | J:31221 | View | ||||
| congenital myasthenic syndrome 4A | \Chrnetm2Vwi/\Chrnetm2Vwi | involves: 129P2/OlaHsd * C57BL/6 | J:182046 | View | ||||
| congenital myasthenic syndrome 4A | \Tg(Ckm-Chrne*L269F)5Cgz/? | involves: FVB/NJ | J:193524 | View | ||||
| congenital myasthenic syndrome 4C | \Chrnetm1Vwi/\Chrnetm1Vwi | involves: 129P2/OlaHsd * C57BL/6 | J:128178 | View | ||||
| congenital myasthenic syndrome 5 | \Colqtm1Jrs/\Colqtm1Jrs | involves: 129S1/Sv * 129X1/SvJ | J:54006 | View | ||||
| congenital myasthenic syndrome 6 | \Chattm1.1Jrs/\Chattm1.1Jrs | Not Specified | J:91066 | View | ||||
| congenital myasthenic syndrome 6 | \Chattm1Fhg/\Chattm1Fhg | involves: 129S2/SvPas * C57BL/6 | J:81738 | View | ||||
| congenital myasthenic syndrome 8 | \Agrnnmf380/\Agrnnmf380 | C57BL/6J-Agrnnmf380/J | J:176117 | View | ||||
| congenital myasthenic syndrome 9 | \Musktm1.1Vwi/\Musktm2Vwi | Not Specified | J:141024 | View | ||||
| congenital myasthenic syndrome 9 |
\Musktm1Vwi/\Musktm1.1Vwi \Tg(Ckmm-cre)5Khn/0 |
involves: C57BL/6J * FVB | J:106867 | View | ||||
| congenital myasthenic syndrome 9 |
\Musktm1Vwi/\Musktm1Vwi \Tg(Ckmm-cre)5Khn/0 |
involves: C57BL/6J * FVB | J:106867 | View | ||||
| congenital myasthenic syndrome 10 | \Dok7tm2Yyam/\Dok7tm2Yyam | involves: 129P2/OlaHsd * C57BL/6J | J:213767 | View | ||||
| congenital myasthenic syndrome 11 | \Rapsnem1Gan/\Rapsnem1Gan | C57BL/6J-Rapsnem1Gan | J:282816 | View | ||||
| congenital myasthenic syndrome 12 |
\Gfpt1tm1c(EUCOMM)Wtsi/\Gfpt1tm1c(EUCOMM)Wtsi \Tg(Ckmm-cre)5Khn/0 |
involves: C57BL/6J * C57BL/6N * SJL/J | J:265013 | View | ||||
| congenital myasthenic syndrome 19 | \Col13a1tm3.1Pih/\Col13a1tm3.1Pih | involves: 129S1/Sv * 129X1/SvJ | J:242846 | View | ||||
| | Charcot-Marie-Tooth disease intermediate type | \Cfap276em2.1Fuxi/\Cfap276+ | involves: C57BL/6J | J:295996 | View | |||
| Charcot-Marie-Tooth disease intermediate type | \Cfap276em2.1Fuxi/\Cfap276em2.1Fuxi | involves: C57BL/6J | J:295996 | View | ||||
| Charcot-Marie-Tooth disease type 6 | \Slc25a46atc/\Slc25a46atc | B6.Cg-Slc25a46atc | J:242350 | View | ||||
| Lambert-Eaton myasthenic syndrome | \Cacna1atg-rol/\Cacna1atg-rol | involves: C57BL/6 * SIII | J:164115 | View | ||||
| neuromuscular disease | \Nemfem8Cx/\Nemfem8Cx | C57BL/6J-Nemfem8Cx/Cx | J:296528 | View | ||||
| neuromuscular disease | \Nemfpdft/\Nemfpdft | B6(C3)-Nemfpdft/Cx | J:296528 | View | ||||
| neuromuscular disease | \Nemftvrm116/\Nemftvrm116 | C57BL/6J-Nemftvrm116/PjnCx | J:296528 | View | ||||
| Transgenes and Other Mutations | Charcot-Marie-Tooth disease axonal type 2F | \Tg(Thy1-HSPB1*S135F)#Lvdb/0 | involves: FVB/N | J:174508 | View | |||
| Charcot-Marie-Tooth disease type 1A | \Tg(PMP22)C3Fbas/? | B6.Cg-Tg(PMP22)C3Fbas | J:237901 | View | ||||
| Charcot-Marie-Tooth disease type 1A | \Tg(PMP22)C22Clh/0 | involves: C57BL/6J * CBA/Ca | J:78221, J:76795 | View | ||||
| Charcot-Marie-Tooth disease type 1A | \Tg(PMP22)C61Clh/0 | B6.Cg-Tg(PMP22)C61Clh | J:158350 | View | ||||
| Charcot-Marie-Tooth disease type 1C | \Tg(CMV-LITAF*W116G)#Lli/\Tg(CMV-LITAF*W116G)#Lli | FVB-Tg(CMV-LITAF*W116G)#Lli | J:194981 | View | ||||
| Charcot-Marie-Tooth disease type 2A2A | \Tg(Eno2-MFN2*R94Q)L51Ugfm/0 | involves: C57BL/6 * C57BL/6J * DBA/2 | J:158936 | View | ||||
| Charcot-Marie-Tooth disease type 2A2A | \Tg(Eno2-MFN2*R94Q)L51Ugfm/0 | involves: C57BL/6 * DBA/2 | J:173431 | View | ||||
| Charcot-Marie-Tooth disease type 2A2A | \Tg(Eno2-MFN2*R94Q)L87Ugfm/\Tg(Eno2-MFN2*R94Q)L87Ugfm | involves: C57BL/6 * DBA/2 | J:173431 | View | ||||
| Charcot-Marie-Tooth disease type 2E | \Tg(NEFL*E397K)1Milg/0 | Not Specified | J:173771 | View | ||||
| Charcot-Marie-Tooth disease type 2E |
\Tg(tetO-NEFL)173.2Jpj/0 \Tg(THY1-tTA)177Jpj/0 |
involves: C3H * C57BL/6 | J:160704 | View | ||||
| Additional Complex Models | Charcot-Marie-Tooth disease type 2A2A |
\Gt(ROSA)26Sortm1(CAG-MFN2*T105M)Dple/\Gt(ROSA)26Sor+ \Tg(Nes-cre)1Kln/0 |
involves: C57BL/6 * SJL | J:251584 | View | |||
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No similarity to the expected human disease phenotype was found.
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| Disease Term | Allelic Composition | Genetic Background | Reference | Phenotypes | ||||
| NOT Models | Charcot-Marie-Tooth disease type 2B1 | \Lmnatm1.1Vde/\Lmnatm1.1Vde | B6.129(Cg)-Lmnatm1.1Vde | J:322912 | View | |||