Disease Term | Human Homologs | Mouse Homologs | Mouse Models | Homology Source | |||
autosomal recessive limb-girdle muscular dystrophy type 2A | CAPN3* | Capn3* | 3 models | Alliance of Genome Resources | |||
autosomal recessive limb-girdle muscular dystrophy type 2B | DYSF* | Dysf* | 5 models | Alliance of Genome Resources | |||
autosomal recessive limb-girdle muscular dystrophy type 2C | SGCG* | Sgcg* | 2 models | Alliance of Genome Resources | |||
autosomal recessive limb-girdle muscular dystrophy type 2D | SGCA* | Sgca* | 3 models | Alliance of Genome Resources | |||
autosomal recessive limb-girdle muscular dystrophy type 2E | SGCB* | Sgcb* | 2 models | Alliance of Genome Resources | |||
autosomal recessive limb-girdle muscular dystrophy type 2F | SGCD* | Sgcd* | 3 models | Alliance of Genome Resources | |||
autosomal recessive limb-girdle muscular dystrophy type 2G | TCAP* | Tcap* | 1 model | Alliance of Genome Resources | |||
autosomal recessive limb-girdle muscular dystrophy type 2H | TRIM32* | Trim32* | 2 models | Alliance of Genome Resources | |||
autosomal recessive limb-girdle muscular dystrophy type 2I | FKRP* | Fkrp* | 4 models | Alliance of Genome Resources | |||
autosomal recessive limb-girdle muscular dystrophy type 2J | TTN* | Ttn* | 3 models | Alliance of Genome Resources | |||
autosomal recessive limb-girdle muscular dystrophy type 2L | ANO5* | Ano5* | 1 model | Alliance of Genome Resources | |||
autosomal recessive limb-girdle muscular dystrophy type 2P | DAG1* | Dag1* | 1 model | Alliance of Genome Resources | |||
autosomal recessive limb-girdle muscular dystrophy type 2U | CRPPA* | Crppa* | 1 model | Alliance of Genome Resources | |||
Becker muscular dystrophy | DMD* | Dmd* | 1 model | Alliance of Genome Resources | |||
Bethlem myopathy | COL6A1* | Col6a1* | 1 model | Alliance of Genome Resources | |||
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 merosin-deficient muscular dystrophy 1A | LAMA2* | Lama2* | 10 models | Alliance of Genome Resources | |||
congenital muscular dystrophy due to integrin alpha-7 deficiency | ITGA7* | Itga7* | 1 model | Alliance of Genome Resources | |||
congenital muscular dystrophy due to LMNA mutation | LMNA* | Lmna* | 1 model | 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 | |||
Duchenne muscular dystrophy | DMD* | Dmd* | 30 models | Alliance of Genome Resources | |||
Emery-Dreifuss muscular dystrophy | LMNA* | Lmna* | 2 models | Alliance of Genome Resources | |||
Fukuyama congenital muscular dystrophy | FKTN* | Fktn* | 6 models | Alliance of Genome Resources | |||
megaconial type congenital muscular dystrophy | CHKB* | Chkb* | 1 model | Alliance of Genome Resources | |||
muscular dystrophy | FKRP* | Fkrp* | 1 model | Alliance of Genome Resources | |||
muscular dystrophy-dystroglycanopathy type B1 | POMT1* | Pomt1* | 1 model | Alliance of Genome Resources | |||
muscular dystrophy-dystroglycanopathy type B5 | FKRP* | Fkrp* | 1 model | Alliance of Genome Resources | |||
muscular dystrophy-dystroglycanopathy type B6 | LARGE1* | Large1* | 1 model | Alliance of Genome Resources | |||
myotonic dystrophy type 1 | DMPK* | Dmpk* | 2 models | Alliance of Genome Resources | |||
rigid spine muscular dystrophy 1 | SELENON* | Selenon* | 1 model | Alliance of Genome Resources | |||
tibial muscular dystrophy | TTN* | Ttn* | 1 model | Alliance of Genome Resources | |||
Walker-Warburg syndrome | POMGNT1* | Pomgnt1* | 2 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 | |||
congenital muscular dystrophy | COL6A3 | Col6a3* | 1 model | Alliance of Genome Resources | |||
distal myopathy | DNAJB4 | Dnajb4* | 2 models | Alliance of Genome Resources | |||
distal myopathy | DYSF | Dysf* | 4 models | Alliance of Genome Resources | |||
Duchenne muscular dystrophy | CTSS | Ctss* | 1 model | Alliance of Genome Resources | |||
Emery-Dreifuss muscular dystrophy | SYNE1 | Syne1* | 1 model | Alliance of Genome Resources | |||
Emery-Dreifuss muscular dystrophy | ZMPSTE24 | Zmpste24* | 1 model | Alliance of Genome Resources | |||
facioscapulohumeral muscular dystrophy | LARGE1 | Large1* | 1 model | Alliance of Genome Resources | |||
facioscapulohumeral muscular dystrophy | FAT1 | Fat1* | 3 models | Alliance of Genome Resources | |||
Lambert-Eaton myasthenic syndrome | CACNA1A | Cacna1a* | 1 model | Alliance of Genome Resources | |||
limb-girdle muscular dystrophy | SGCG | Sgcg* | 1 model | Alliance of Genome Resources | |||
muscular dystrophy-dystroglycanopathy type B1 | FKRP | Fkrp* | 2 models | Alliance of Genome Resources | |||
muscular dystrophy-dystroglycanopathy type B1 | POMGNT1 | Pomgnt1* | 1 model | Alliance of Genome Resources | |||
muscular dystrophy-dystroglycanopathy type B1 | LARGE1 | Large1* | 3 models | Alliance of Genome Resources | |||
muscular dystrophy-dystroglycanopathy type B1 | FKTN | Fktn* | 3 models | Alliance of Genome Resources | |||
muscular dystrophy-dystroglycanopathy type B1 | B4GAT1 | B4gat1* | 1 model | Alliance of Genome Resources | |||
myotonic disease | MBNL1 | Mbnl1* | 2 models | Alliance of Genome Resources | |||
neuromuscular disease | NEMF | Nemf* | 3 models | Alliance of Genome Resources | |||
scapuloperoneal myopathy | FHL1 | Fhl1* | 1 model | Alliance of Genome Resources | |||
Ullrich congenital muscular dystrophy | COL6A1 | Col6a1* | 1 model | Alliance of Genome Resources | |||
Ullrich congenital muscular dystrophy | COL6A3 | Col6a3* | 1 model | Alliance of Genome Resources | |||
Walker-Warburg syndrome | COL4A1 | Col4a1* | 1 model | Alliance of Genome Resources | |||
autosomal dominant Emery-Dreifuss muscular dystrophy 2 | LMNA* | Lmna | Alliance of Genome Resources | ||||
autosomal dominant Emery-Dreifuss muscular dystrophy 4 | SYNE1* | Syne1 | Alliance of Genome Resources | ||||
autosomal dominant Emery-Dreifuss muscular dystrophy 5 | SYNE2* | Syne2 | Alliance of Genome Resources | ||||
autosomal dominant Emery-Dreifuss muscular dystrophy 7 | TMEM43* | Tmem43 | Alliance of Genome Resources | ||||
autosomal dominant limb-girdle muscular dystrophy | CAPN3* | Capn3 | Alliance of Genome Resources | ||||
autosomal dominant limb-girdle muscular dystrophy type 1 | DNAJB6* | Dnajb6 | Alliance of Genome Resources | ||||
autosomal dominant limb-girdle muscular dystrophy type 2 | TNPO3* | Tnpo3 | Alliance of Genome Resources | ||||
autosomal dominant limb-girdle muscular dystrophy type 3 | HNRNPDL* | Hnrnpdl | Alliance of Genome Resources | ||||
autosomal recessive Emery-Dreifuss muscular dystrophy 3 | LMNA* | Lmna | Alliance of Genome Resources | ||||
autosomal recessive limb-girdle muscular dystrophy | LAMA2* | Lama2 | Alliance of Genome Resources | ||||
autosomal recessive limb-girdle muscular dystrophy | POMT2* | Pomt2 | Alliance of Genome Resources | ||||
autosomal recessive limb-girdle muscular dystrophy | POPDC3* | Popdc3 | Alliance of Genome Resources | ||||
autosomal recessive limb-girdle muscular dystrophy | JAG2* | Jag2 | Alliance of Genome Resources | ||||
autosomal recessive limb-girdle muscular dystrophy | HMGCR* | Hmgcr | Alliance of Genome Resources | ||||
autosomal recessive limb-girdle muscular dystrophy type 2D | DAG1* | Dag1 | Alliance of Genome Resources | ||||
autosomal recessive limb-girdle muscular dystrophy type 2K | POMT1* | Pomt1 | Alliance of Genome Resources | ||||
autosomal recessive limb-girdle muscular dystrophy type 2L | FKTN* | Fktn | Alliance of Genome Resources | ||||
autosomal recessive limb-girdle muscular dystrophy type 2M | FKTN* | Fktn | Alliance of Genome Resources | ||||
autosomal recessive limb-girdle muscular dystrophy type 2N | POMT2* | Pomt2 | Alliance of Genome Resources | ||||
autosomal recessive limb-girdle muscular dystrophy type 2O | POMGNT1* | Pomgnt1 | Alliance of Genome Resources | ||||
autosomal recessive limb-girdle muscular dystrophy type 2Q | PLEC* | Plec | Alliance of Genome Resources | ||||
autosomal recessive limb-girdle muscular dystrophy type 2S | TRAPPC11* | Trappc11 | Alliance of Genome Resources | ||||
autosomal recessive limb-girdle muscular dystrophy type 2T | GMPPB* | Gmppb | Alliance of Genome Resources | ||||
autosomal recessive limb-girdle muscular dystrophy type 2W | LIMS2* | Lims2 | Alliance of Genome Resources | ||||
autosomal recessive limb-girdle muscular dystrophy type 2X | POPDC1* | Popdc1 | Alliance of Genome Resources | ||||
autosomal recessive limb-girdle muscular dystrophy type 2Y | TOR1AIP1* | Tor1aip1 | Alliance of Genome Resources | ||||
autosomal recessive limb-girdle muscular dystrophy type 2Z | POGLUT1* | Poglut1 | Alliance of Genome Resources | ||||
Bethlem myopathy | COL6A2* | Col6a2 | Alliance of Genome Resources | ||||
Bethlem myopathy | COL12A1* | Col12a1 | Alliance of Genome Resources | ||||
Bethlem myopathy | COL6A3* | Col6a3 | Alliance of Genome Resources | ||||
Brody myopathy | ATP2A1* | Atp2a1 | 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 | FBLN5* | Fbln5 | 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 | MFN2* | Mfn2 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease | NEFL* | Nefl | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease | NRG1* | Nrg1 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease | PMP22* | Pmp22 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease | POLR3B* | Polr3b | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease | SLC12A6* | Slc12a6 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease axonal type 2C | TRPV4* | Trpv4 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease axonal type 2C | GDAP1* | Gdap1 | 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 muscular dystrophy-dystroglycanopathy A14 | GMPPB* | Gmppb | Alliance of Genome Resources | ||||
congenital muscular dystrophy-dystroglycanopathy A7 | CRPPA* | Crppa | Alliance of Genome Resources | ||||
congenital muscular dystrophy-dystroglycanopathy type A1 | POMT1* | Pomt1 | Alliance of Genome Resources | ||||
congenital muscular dystrophy-dystroglycanopathy type A10 | RXYLT1* | Rxylt1 | Alliance of Genome Resources | ||||
congenital muscular dystrophy-dystroglycanopathy type A11 | B3GALNT2* | B3galnt2 | Alliance of Genome Resources | ||||
congenital muscular dystrophy-dystroglycanopathy type A12 | POMK* | Pomk | Alliance of Genome Resources | ||||
congenital muscular dystrophy-dystroglycanopathy type A13 | B4GAT1* | B4gat1 | Alliance of Genome Resources | ||||
congenital muscular dystrophy-dystroglycanopathy type A2 | POMT2* | Pomt2 | Alliance of Genome Resources | ||||
congenital muscular dystrophy-dystroglycanopathy type A3 | POMGNT1* | Pomgnt1 | Alliance of Genome Resources | ||||
congenital muscular dystrophy-dystroglycanopathy type A5 | FKRP* | Fkrp | Alliance of Genome Resources | ||||
congenital muscular dystrophy-dystroglycanopathy type A6 | LARGE1* | Large1 | Alliance of Genome Resources | ||||
congenital muscular dystrophy-dystroglycanopathy type A8 | POMGNT2* | Pomgnt2 | Alliance of Genome Resources | ||||
congenital muscular dystrophy-dystroglycanopathy type A9 | DAG1* | Dag1 | Alliance of Genome Resources | ||||
congenital muscular dystrophy with cataracts and intellectual disability | INPP5K* | Inpp5k | Alliance of Genome Resources | ||||
congenital myasthenic syndrome | VAMP1* | Vamp1 | Alliance of Genome Resources | ||||
congenital myasthenic syndrome | CHRNE* | Chrne | 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 | 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 | ||||
distal myopathy | LDB3* | Ldb3 | Alliance of Genome Resources | ||||
distal myopathy 1 | MYH7* | Myh7 | Alliance of Genome Resources | ||||
distal myopathy 3 | HNRNPA1*, HNRNPA1L2 | Hnrnpa1, Hnrnpa1l2-ps2 | Alliance of Genome Resources | ||||
distal myopathy 4 | FLNC* | Flnc | Alliance of Genome Resources | ||||
distal myopathy Tateyama type | CAV3* | Cav3 | Alliance of Genome Resources | ||||
distal myopathy with anterior tibial onset | DYSF* | Dysf | Alliance of Genome Resources | ||||
distal myopathy with rimmed vacuoles | SQSTM1* | Sqstm1 | Alliance of Genome Resources | ||||
Duchenne muscular dystrophy | ITGA7* | Itga7 | 1 model | Alliance of Genome Resources | |||
Duchenne muscular dystrophy | DAG1* | Dag1 | Alliance of Genome Resources | ||||
Emery-Dreifuss muscular dystrophy | EMD* | Emd | Alliance of Genome Resources | ||||
facioscapulohumeral muscular dystrophy 2 | SMCHD1* | Smchd1 | Alliance of Genome Resources | ||||
facioscapulohumeral muscular dystrophy 3 | LRIF1* | Lrif1 | Alliance of Genome Resources | ||||
facioscapulohumeral muscular dystrophy 4 | DNMT3B* | Dnmt3b | Alliance of Genome Resources | ||||
Lambert-Eaton myasthenic syndrome | CACNA1B* | Cacna1b | Alliance of Genome Resources | ||||
Lambert-Eaton myasthenic syndrome | CHRM1* | Chrm1 | Alliance of Genome Resources | ||||
limb-girdle muscular dystrophy | FKRP* | Fkrp | Alliance of Genome Resources | ||||
Miyoshi muscular dystrophy 1 | DYSF* | Dysf | Alliance of Genome Resources | ||||
Miyoshi muscular dystrophy 3 | ANO5* | Ano5 | Alliance of Genome Resources | ||||
muscular dystrophy | POMT2* | Pomt2 | Alliance of Genome Resources | ||||
muscular dystrophy | SGCB* | Sgcb | Alliance of Genome Resources | ||||
muscular dystrophy | SGCD* | Sgcd | Alliance of Genome Resources | ||||
muscular dystrophy | SYNE1* | Syne1 | Alliance of Genome Resources | ||||
muscular dystrophy | TRIM32* | Trim32 | Alliance of Genome Resources | ||||
muscular dystrophy | SGCA* | Sgca | Alliance of Genome Resources | ||||
muscular dystrophy | POMT1* | Pomt1 | Alliance of Genome Resources | ||||
muscular dystrophy | POMGNT1* | Pomgnt1 | Alliance of Genome Resources | ||||
muscular dystrophy | MYOT* | Myot | Alliance of Genome Resources | ||||
muscular dystrophy | LAMA2* | Lama2 | Alliance of Genome Resources | ||||
muscular dystrophy | FKTN* | Fktn | Alliance of Genome Resources | ||||
muscular dystrophy | DYSF* | Dysf | Alliance of Genome Resources | ||||
muscular dystrophy | COL6A3* | Col6a3 | Alliance of Genome Resources | ||||
muscular dystrophy | CHKB* | Chkb | Alliance of Genome Resources | ||||
muscular dystrophy | CAV3* | Cav3 | Alliance of Genome Resources | ||||
muscular dystrophy | CAPN3* | Capn3 | Alliance of Genome Resources | ||||
muscular dystrophy-dystroglycanopathy | GMPPB* | Gmppb | Alliance of Genome Resources | ||||
muscular dystrophy-dystroglycanopathy type B14 | GMPPB* | Gmppb | Alliance of Genome Resources | ||||
muscular dystrophy-dystroglycanopathy type B15 | DPM3* | Dpm3 | Alliance of Genome Resources | ||||
muscular dystrophy-dystroglycanopathy type B2 | POMT2* | Pomt2 | Alliance of Genome Resources | ||||
muscular dystrophy-dystroglycanopathy type B3 | POMGNT1* | Pomgnt1 | Alliance of Genome Resources | ||||
muscular dystrophy-dystroglycanopathy type B4 | FKTN* | Fktn | Alliance of Genome Resources | ||||
muscular dystrophy-dystroglycanopathy type C12 | POMK* | Pomk | Alliance of Genome Resources | ||||
muscular dystrophy-dystroglycanopathy type C8 | POMGNT2* | Pomgnt2 | Alliance of Genome Resources | ||||
myotonic dystrophy type 2 | CNBP* | Cnbp | Alliance of Genome Resources | ||||
neuromuscular disease | GPI* | Gpi1 | Alliance of Genome Resources | ||||
oculopharyngeal muscular dystrophy | PABPN1* | Pabpn1 | 1 model | Alliance of Genome Resources | |||
paramyotonia congenita of Von Eulenburg | SCN4A* | Scn4a | Alliance of Genome Resources | ||||
Ullrich congenital muscular dystrophy 1A | COL6A1* | Col6a1 | Alliance of Genome Resources | ||||
Ullrich congenital muscular dystrophy 1B | COL6A2* | Col6a2 | Alliance of Genome Resources | ||||
Ullrich congenital muscular dystrophy 1C | COL6A3* | Col6a3 | Alliance of Genome Resources | ||||
Ullrich congenital muscular dystrophy 2 | COL12A1* | Col12a1 | Alliance of Genome Resources | ||||
Walker-Warburg syndrome | FKTN* | Fktn | Alliance of Genome Resources | ||||
Walker-Warburg syndrome | FKRP* | Fkrp | Alliance of Genome Resources | ||||
Walker-Warburg syndrome | POMT2* | Pomt2 | Alliance of Genome Resources | ||||
Walker-Warburg syndrome | POMT1* | Pomt1 | Alliance of Genome Resources | ||||
X-linked Emery-Dreifuss muscular dystrophy 1 | EMD* | Emd | Alliance of Genome Resources | ||||
X-linked Emery-Dreifuss muscular dystrophy 6 | FHL1* | Fhl1 | 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 | |
autosomal dominant limb-girdle muscular dystrophy type 1 | Tg(Ckm-DNAJB6_ib*F93L)#Ccwe | 1 model | |
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)88.2Mfel | 1 model | |
Charcot-Marie-Tooth disease type 1B | Tg(Mpz)88.4Mfel | 1 model | |
Charcot-Marie-Tooth disease type 1B | Tg(Mpz*S63X)30Mes | 1 model | |
Charcot-Marie-Tooth disease type 1B | Tg(Mpz*S63X)31Mes | 2 models | |
Charcot-Marie-Tooth disease type 1B | Tg(Mpz)88.1Mfel | 1 model | |
Charcot-Marie-Tooth disease type 1C | Tg(CMV-LITAF*W116G)#Lli | 1 model | |
Charcot-Marie-Tooth disease type 2A2A | Tg(Eno2-MFN2*R94Q)L87Ugfm | 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)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)32Mes | 1 model | |
Charcot-Marie-Tooth disease type 3 | Tg(Mpz*S63C)33Mes | 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 | |
Duchenne muscular dystrophy | Tg(ACTA1-Ctss)1Jmol | 1 model | |
facioscapulohumeral muscular dystrophy | Tg(ACTA1-FRG1)medRotu | 1 model | |
facioscapulohumeral muscular dystrophy | Tg(ACTA1-FRG1)highRotu | 1 model | |
limb-girdle muscular dystrophy | Tg(Ckm-Sgcg)4Mcn | 1 model | |
myotonic dystrophy type 1 | Tg(Ckm-CUGBP1)1039Coop | 1 model | |
myotonic dystrophy type 1 | Tg(DMPK/tetO-EGFP/DMPK)5-313Masm | 1 model | |
myotonic dystrophy type 1 | Tg(tetO-CUGBP1)3413Coop | 1 model | |
myotonic dystrophy type 1 | Tg(HSA*LR)41Cath | 1 model | |
myotonic dystrophy type 1 | Tg(HSA*LR)32bCath | 1 model | |
myotonic dystrophy type 1 | Tg(HSA*LR)32aCath | 1 model | |
myotonic dystrophy type 1 | Tg(HSA*LR)21Cath | 1 model | |
myotonic dystrophy type 1 | Tg(HSA*LR)20bCath | 1 model | |
myotonic dystrophy type 1 | Tg(CAG-DMPK*)1323Coop | 2 models | |
myotonic dystrophy type 1 | Tg(DM15)26Bew | 1 model | |
myotonic dystrophy type 1 | Tg(HSA*LR)20aCath | 1 model | |
myotonic dystrophy type 1 | Tg(DMWD,DMPK*,SIX5)1177Ggo | 1 model | |
myotonic dystrophy type 1 | Tg(DMWD,DMPK*,SIX5)328Ggo | 1 model | |
oculopharyngeal muscular dystrophy | Tg(ACTA1-PABPN1*A17)1Drub | 1 model |