| 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 | |||
| Compton-North congenital myopathy | CNTN1* | Cntn1* | 3 models | Alliance of Genome Resources | |||
| congenital diaphragmatic hernia | FREM1* | Frem1* | 1 model | Alliance of Genome Resources | |||
| congenital diaphragmatic hernia | PLS3* | Pls3* | 2 models | Alliance of Genome Resources | |||
| congenital diaphragmatic hernia | ZFPM2* | Zfpm2* | 1 model | 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 myopathy 1A | RYR1* | Ryr1* | 3 models | Alliance of Genome Resources | |||
| congenital myopathy 1B | RYR1* | Ryr1* | 1 model | 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 | |||
| isolated mitochondrial myopathy | CHCHD10* | Chchd10* | 1 model | Alliance of Genome Resources | |||
| malignant hyperthermia | RYR1* | Ryr1* | 5 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 | |||
| myofibrillar myopathy 1 | DES* | Des* | 4 models | Alliance of Genome Resources | |||
| myofibrillar myopathy 2 | CRYAB* | Cryab* | 4 models | Alliance of Genome Resources | |||
| myofibrillar myopathy 5 | FLNC* | Flnc* | 1 model | Alliance of Genome Resources | |||
| myostatin-related muscle hypertrophy | MSTN* | Mstn* | 2 models | Alliance of Genome Resources | |||
| myotonia congenita | CLCN1* | Clcn1* | 4 models | Alliance of Genome Resources | |||
| myotonic dystrophy type 1 | DMPK* | Dmpk* | 2 models | Alliance of Genome Resources | |||
| nemaline myopathy 10 | LMOD3* | Lmod3* | 2 models | Alliance of Genome Resources | |||
| nemaline myopathy 11 | MYPN* | Mypn* | 1 model | Alliance of Genome Resources | |||
| nemaline myopathy 2 | NEB* | Neb* | 4 models | Alliance of Genome Resources | |||
| nemaline myopathy 3 | ACTA1* | Acta1* | 2 models | Alliance of Genome Resources | |||
| nemaline myopathy 5A | TNNT1* | Tnnt1* | 1 model | Alliance of Genome Resources | |||
| nemaline myopathy 6 | KBTBD13* | Kbtbd13* | 1 model | Alliance of Genome Resources | |||
| nemaline myopathy 8 | KLHL40* | Klhl40* | 1 model | Alliance of Genome Resources | |||
| rigid spine muscular dystrophy 1 | SELENON* | Selenon* | 1 model | Alliance of Genome Resources | |||
| rippling muscle disease 2 | CAV3* | Cav3* | 3 models | Alliance of Genome Resources | |||
| sick sinus syndrome | SCN5A* | Scn5a* | 2 models | Alliance of Genome Resources | |||
| tibial muscular dystrophy | TTN* | Ttn* | 1 model | Alliance of Genome Resources | |||
| tubular aggregate myopathy 1 | STIM1* | Stim1* | 2 models | Alliance of Genome Resources | |||
| Ullrich congenital muscular dystrophy | COL6A1* | Col6a1* | 1 model | Alliance of Genome Resources | |||
| Walker-Warburg syndrome | POMGNT1* | Pomgnt1* | 2 models | Alliance of Genome Resources | |||
| | centronuclear myopathy | DNM2 | Dnm2* | 1 model | Alliance of Genome Resources | ||
| centronuclear myopathy | KLHL31 | Klhl31* | 1 model | Alliance of Genome Resources | |||
| centronuclear myopathy | MTM1 | Mtm1* | 1 model | Alliance of Genome Resources | |||
| centronuclear myopathy | PLN | Pln* | 1 model | Alliance of Genome Resources | |||
| congenital diaphragmatic hernia | NR2F2 | Nr2f2* | 1 model | Alliance of Genome Resources | |||
| congenital diaphragmatic hernia | b2b1528Clo* | 1 model | |||||
| congenital diaphragmatic hernia | GATA4 | Gata4* | 2 models | Alliance of Genome Resources | |||
| congenital diaphragmatic hernia | KIF7 | Kif7* | 1 model | Alliance of Genome Resources | |||
| congenital diaphragmatic hernia | WT1 | Wt1* | 2 models | Alliance of Genome Resources | |||
| congenital diaphragmatic hernia | SOX7 | Sox7* | 1 model | Alliance of Genome Resources | |||
| congenital diaphragmatic hernia | SLIT3 | Slit3* | 4 models | Alliance of Genome Resources | |||
| congenital diaphragmatic hernia | LRP1 | Lrp1* | 1 model | Alliance of Genome Resources | |||
| congenital diaphragmatic hernia | PDGFRA | Pdgfra* | 1 model | Alliance of Genome Resources | |||
| congenital diaphragmatic hernia | NDST1 | Ndst1* | 1 model | Alliance of Genome Resources | |||
| congenital diaphragmatic hernia | hpld* | 1 model | |||||
| congenital muscular dystrophy | COL6A3 | Col6a3* | 1 model | Alliance of Genome Resources | |||
| congenital myopathy | MYBPC1 | Mybpc1* | 1 model | Alliance of Genome Resources | |||
| congenital myopathy | LDB3 | Ldb3* | 1 model | Alliance of Genome Resources | |||
| dermatomyositis | ANGPTL2 | Angptl2* | 1 model | Alliance of Genome Resources | |||
| distal arthrogryposis | b2b2966Clo* | 1 model | |||||
| distal arthrogryposis | ECEL1 | Ecel1* | 2 models | Alliance of Genome Resources | |||
| distal arthrogryposis | FBN2 | Fbn2* | 4 models | Alliance of Genome Resources | |||
| distal arthrogryposis | TNNI2 | Tnni2* | 2 models | Alliance of Genome Resources | |||
| distal myopathy | DYSF | Dysf* | 4 models | Alliance of Genome Resources | |||
| distal myopathy | DNAJB4 | Dnajb4* | 2 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 | FAT1 | Fat1* | 3 models | Alliance of Genome Resources | |||
| facioscapulohumeral muscular dystrophy | LARGE1 | Large1* | 1 model | Alliance of Genome Resources | |||
| Kearns-Sayre syndrome | TFAM | Tfam* | 2 models | Alliance of Genome Resources | |||
| limb-girdle muscular dystrophy | SGCG | Sgcg* | 1 model | Alliance of Genome Resources | |||
| MELAS syndrome | TRNL1 | mt-Tl1* | 1 model | Alliance of Genome Resources | |||
| mitochondrial myopathy | COX10 | Cox10* | 1 model | Alliance of Genome Resources | |||
| mitochondrial myopathy | ADCK2 | Adck2* | 1 model | Alliance of Genome Resources | |||
| muscular dystrophy-dystroglycanopathy type B1 | FKRP | Fkrp* | 2 models | Alliance of Genome Resources | |||
| muscular dystrophy-dystroglycanopathy type B1 | LARGE1 | Large1* | 3 models | Alliance of Genome Resources | |||
| muscular dystrophy-dystroglycanopathy type B1 | POMGNT1 | Pomgnt1* | 1 model | Alliance of Genome Resources | |||
| muscular dystrophy-dystroglycanopathy type B1 | B4GAT1 | B4gat1* | 1 model | Alliance of Genome Resources | |||
| muscular dystrophy-dystroglycanopathy type B1 | FKTN | Fktn* | 3 models | Alliance of Genome Resources | |||
| myofibrillar myopathy 1 | LDB3 | Ldb3* | 1 model | Alliance of Genome Resources | |||
| myopathy | ASNSD1 | Asnsd1* | 1 model | Alliance of Genome Resources | |||
| myopathy | DNM2 | Dnm2* | 1 model | Alliance of Genome Resources | |||
| myopathy, lactic acidosis, and sideroblastic anemia | PUS1 | Pus1* | 1 model | Alliance of Genome Resources | |||
| myositis | HLA-A, HLA-B, HLA-C, HLA-E, HLA-F, HLA-G, HLA-H | H2-K1*, H2-D1, H2-L, H2-M1, H2-M2, H2-M3, H2-M5, H2-M9, H2-M10.1, H2-M10.2, H2-M10.3, H2-M10.4, H2-M10.5, H2-M10.6, H2-M11, H2-Q1, H2-Q2, H2-Q4, H2-Q6, H2-Q7, H2-Q8, H2-Q10, H2-T3, H2-T10, H2-T22, H2-T23 | 1 model | Alliance of Genome Resources | |||
| myotonic disease | MBNL1 | Mbnl1* | 2 models | Alliance of Genome Resources | |||
| nemaline myopathy | KLHL41 | Klhl41* | 1 model | Alliance of Genome Resources | |||
| scapuloperoneal myopathy | FHL1 | Fhl1* | 1 model | Alliance of Genome Resources | |||
| sick sinus syndrome | HCN1 | Hcn1* | 1 model | Alliance of Genome Resources | |||
| sinoatrial node disease | ANK2 | Ank2* | 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 | |||
| | 3-Methylcrotonyl-CoA carboxylase 1 deficiency | MCCC1* | Mccc1 | Alliance of Genome Resources | |||
| 3-Methylcrotonyl-CoA carboxylase 2 deficiency | MCCC2* | Mccc2 | Alliance of Genome Resources | ||||
| alveolar rhabdomyosarcoma | PAX3* | Pax3 | 4 models | Alliance of Genome Resources | |||
| alveolar rhabdomyosarcoma | PAX7* | Pax7 | Alliance of Genome Resources | ||||
| alveolar rhabdomyosarcoma | FOXO1* | Foxo1 | Alliance of Genome Resources | ||||
| alveolar soft part sarcoma | ASPSCR1* | Aspscr1 | 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 hyaline body myopathy | MYH7* | Myh7 | 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 dominant progressive external ophthalmoplegia 1 | POLG* | Polg | Alliance of Genome Resources | ||||
| autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 | SLC25A4* | Slc25a4 | Alliance of Genome Resources | ||||
| autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 | TWNK* | Twnk | Alliance of Genome Resources | ||||
| autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 | POLG2* | Polg2 | Alliance of Genome Resources | ||||
| autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 | RRM2B* | Rrm2b | Alliance of Genome Resources | ||||
| autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 | DNA2* | Dna2 | Alliance of Genome Resources | ||||
| autosomal recessive Emery-Dreifuss muscular dystrophy 3 | LMNA* | Lmna | Alliance of Genome Resources | ||||
| autosomal recessive hyaline body myopathy | MYH7* | Myh7 | Alliance of Genome Resources | ||||
| autosomal recessive limb-girdle muscular dystrophy | POMT2* | Pomt2 | Alliance of Genome Resources | ||||
| autosomal recessive limb-girdle muscular dystrophy | JAG2* | Jag2 | Alliance of Genome Resources | ||||
| autosomal recessive limb-girdle muscular dystrophy | LAMA2* | Lama2 | Alliance of Genome Resources | ||||
| autosomal recessive limb-girdle muscular dystrophy | HMGCR* | Hmgcr | Alliance of Genome Resources | ||||
| autosomal recessive limb-girdle muscular dystrophy | POPDC3* | Popdc3 | 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 | BVES* | Bves | 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 | ||||
| autosomal recessive progressive external ophthalmoplegia 1 | POLG* | Polg | Alliance of Genome Resources | ||||
| autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 | RNASEH1* | Rnaseh1 | Alliance of Genome Resources | ||||
| autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3 | TK2* | Tk2 | Alliance of Genome Resources | ||||
| autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 | DGUOK* | Dguok | Alliance of Genome Resources | ||||
| autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 | TOP3A* | Top3a | Alliance of Genome Resources | ||||
| Becker disease | CLCN1* | Clcn1 | Alliance of Genome Resources | ||||
| Bethlem myopathy | COL6A2* | Col6a2 | Alliance of Genome Resources | ||||
| Bethlem myopathy | COL12A1* | Col12a1 | Alliance of Genome Resources | ||||
| Brody myopathy | ATP2A1* | Atp2a1 | Alliance of Genome Resources | ||||
| centronuclear myopathy 1 | DNM2* | Dnm2 | Alliance of Genome Resources | ||||
| centronuclear myopathy 1 | MTMR14* | Mtmr14 | Alliance of Genome Resources | ||||
| centronuclear myopathy 2 | BIN1* | Bin1 | Alliance of Genome Resources | ||||
| centronuclear myopathy 4 | CCDC78* | Ccdc78 | Alliance of Genome Resources | ||||
| centronuclear myopathy 5 | SPEG* | Speg | Alliance of Genome Resources | ||||
| centronuclear myopathy 6 with fiber-type disproportion | MAP3K20* | Map3k20 | Alliance of Genome Resources | ||||
| chronic progressive external ophthalmoplegia | TWNK* | Twnk | Alliance of Genome Resources | ||||
| chronic progressive external ophthalmoplegia | POLG* | Polg | Alliance of Genome Resources | ||||
| chronic progressive external ophthalmoplegia | RRM1* | Rrm1 | Alliance of Genome Resources | ||||
| chronic progressive external ophthalmoplegia | SLC25A4* | Slc25a4 | Alliance of Genome Resources | ||||
| congenital contractural arachnodactyly | FBN2* | Fbn2 | Alliance of Genome Resources | ||||
| congenital diaphragmatic hernia | MYRF* | Myrf | Alliance of Genome Resources | ||||
| congenital diaphragmatic hernia | ALDH1A2* | Aldh1a2 | 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 myopathy | HACD1* | Hacd1 | Alliance of Genome Resources | ||||
| congenital myopathy 10B | MEGF10* | Megf10 | Alliance of Genome Resources | ||||
| congenital myopathy 14 | MYL1* | Myl1 | Alliance of Genome Resources | ||||
| congenital myopathy 15 | TNNC2* | Tnnc2 | Alliance of Genome Resources | ||||
| congenital myopathy 16 | MYBPC1* | Mybpc1 | Alliance of Genome Resources | ||||
| congenital myopathy 17 | MYOD1* | Myod1 | Alliance of Genome Resources | ||||
| congenital myopathy 18 | CACNA1S* | Cacna1s | Alliance of Genome Resources | ||||
| congenital myopathy 19 | PAX7* | Pax7 | Alliance of Genome Resources | ||||
| congenital myopathy 20 | RYR3* | Ryr3 | Alliance of Genome Resources | ||||
| congenital myopathy 21 | DNAJB4* | Dnajb4 | Alliance of Genome Resources | ||||
| congenital myopathy 22A | SCN4A* | Scn4a | Alliance of Genome Resources | ||||
| congenital myopathy 22B | SCN4A* | Scn4a | Alliance of Genome Resources | ||||
| congenital myopathy 2B | ACTA1* | Acta1 | Alliance of Genome Resources | ||||
| congenital myopathy 2C | ACTA1* | Acta1 | Alliance of Genome Resources | ||||
| congenital myopathy 4A | TPM3* | Tpm3 | Alliance of Genome Resources | ||||
| congenital myopathy 5 | TTN* | Ttn | Alliance of Genome Resources | ||||
| congenital myopathy 6 | MYH2* | Myh2 | Alliance of Genome Resources | ||||
| congenital myopathy 8 | ACTN2* | Actn2 | Alliance of Genome Resources | ||||
| congenital myopathy 9A | FXR1* | Fxr1 | Alliance of Genome Resources | ||||
| congenital myopathy 9B | FXR1* | Fxr1 | Alliance of Genome Resources | ||||
| congenital structural myopathy | MYF6* | Myf6 | Alliance of Genome Resources | ||||
| congenital structural myopathy | ANKRD1* | Ankrd1 | Alliance of Genome Resources | ||||
| congenital structural myopathy | MTM1* | Mtm1 | Alliance of Genome Resources | ||||
| dermatomyositis | STAT4* | Stat4 | Alliance of Genome Resources | ||||
| dermatomyositis | PMS1* | Pms1 | Alliance of Genome Resources | ||||
| dermatomyositis | MBL2* | Mbl2 | Alliance of Genome Resources | ||||
| distal arthrogryposis | MET* | Met | Alliance of Genome Resources | ||||
| distal arthrogryposis | ADAMTS15* | Adamts15 | Alliance of Genome Resources | ||||
| distal arthrogryposis type 1A | TPM2* | Tpm2 | Alliance of Genome Resources | ||||
| distal arthrogryposis type 1B | MYBPC1* | Mybpc1 | Alliance of Genome Resources | ||||
| distal arthrogryposis type 1C | MYL11* | Mylpf | Alliance of Genome Resources | ||||
| distal arthrogryposis type 2A | MYH3* | Myh3 | Alliance of Genome Resources | ||||
| distal arthrogryposis type 2B | MYH3* | Myh3 | Alliance of Genome Resources | ||||
| distal arthrogryposis type 2B | TNNT3* | Tnnt3 | Alliance of Genome Resources | ||||
| distal arthrogryposis type 2B1 | TNNI2* | Tnni2 | Alliance of Genome Resources | ||||
| distal arthrogryposis type 2B2 | TNNT3* | Tnnt3 | Alliance of Genome Resources | ||||
| distal arthrogryposis type 2B3 | MYH3* | Myh3 | Alliance of Genome Resources | ||||
| distal arthrogryposis type 3 | PIEZO2* | Piezo2 | Alliance of Genome Resources | ||||
| distal arthrogryposis type 5 | PIEZO2* | Piezo2 | Alliance of Genome Resources | ||||
| distal arthrogryposis type 5D | ECEL1* | Ecel1 | Alliance of Genome Resources | ||||
| distal arthrogryposis type 7 | MYH8* | Myh8 | 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 | DAG1* | Dag1 | Alliance of Genome Resources | ||||
| Duchenne muscular dystrophy | ITGA7* | Itga7 | 1 model | Alliance of Genome Resources | |||
| early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome | MEGF10* | Megf10 | 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 | ||||
| fatal infantile hypertonic myofibrillar myopathy | CRYAB* | Cryab | Alliance of Genome Resources | ||||
| GNE myopathy | GNE* | Gne | Alliance of Genome Resources | ||||
| inclusion body myositis | MYH2* | Myh2 | Alliance of Genome Resources | ||||
| inclusion body myositis | DAG1* | Dag1 | Alliance of Genome Resources | ||||
| inclusion body myositis | VCP* | Vcp | Alliance of Genome Resources | ||||
| inclusion body myositis | TUBG1* | Tubg1 | Alliance of Genome Resources | ||||
| inclusion body myositis | SOD2* | Sod2 | Alliance of Genome Resources | ||||
| inclusion body myositis | CLU* | Clu | Alliance of Genome Resources | ||||
| King Denborough syndrome | RYR1* | Ryr1 | Alliance of Genome Resources | ||||
| leiomyosarcoma | MED12* | Med12 | Alliance of Genome Resources | ||||
| limb-girdle muscular dystrophy | FKRP* | Fkrp | Alliance of Genome Resources | ||||
| malignant hyperthermia | CACNG1* | Cacng1 | Alliance of Genome Resources | ||||
| malignant hyperthermia | CACNA1S* | Cacna1s | Alliance of Genome Resources | ||||
| MELAS syndrome | ND5* | mt-Nd5 | Alliance of Genome Resources | ||||
| MELAS syndrome | COX3* | mt-Co3 | Alliance of Genome Resources | ||||
| MELAS syndrome | ND1* | mt-Nd1 | Alliance of Genome Resources | ||||
| mitochondrial encephalomyopathy | POLG* | Polg | Alliance of Genome Resources | ||||
| mitochondrial encephalomyopathy | TYMP* | Tymp | Alliance of Genome Resources | ||||
| mitochondrial myopathy | DNA2* | Dna2 | Alliance of Genome Resources | ||||
| mitochondrial myopathy | FDX2* | Fdx2 | Alliance of Genome Resources | ||||
| mitochondrial myopathy | SLC25A4* | Slc25a4 | 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 disease | LPL* | Lpl | Alliance of Genome Resources | ||||
| muscular disease | CLU* | Clu | Alliance of Genome Resources | ||||
| muscular disease | CPT2* | Cpt2 | Alliance of Genome Resources | ||||
| muscular disease | HMGCR* | Hmgcr | Alliance of Genome Resources | ||||
| muscular disease | ITGA7* | Itga7 | Alliance of Genome Resources | ||||
| muscular disease | TUBG1* | Tubg1 | Alliance of Genome Resources | ||||
| muscular dystrophy | SGCD* | Sgcd | Alliance of Genome Resources | ||||
| muscular dystrophy | SGCA* | Sgca | Alliance of Genome Resources | ||||
| muscular dystrophy | POMT2* | Pomt2 | 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 | TRIM32* | Trim32 | Alliance of Genome Resources | ||||
| muscular dystrophy | SYNE1* | Syne1 | Alliance of Genome Resources | ||||
| muscular dystrophy | SGCB* | Sgcb | 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 | ||||
| myofibrillar myopathy 10 | SVIL* | Svil | Alliance of Genome Resources | ||||
| myofibrillar myopathy 11 | UNC45B* | Unc45b | Alliance of Genome Resources | ||||
| myofibrillar myopathy 3 | MYOT* | Myot | 1 "NOT" model | Alliance of Genome Resources | |||
| myofibrillar myopathy 4 | LDB3* | Ldb3 | Alliance of Genome Resources | ||||
| myofibrillar myopathy 6 | BAG3* | Bag3 | Alliance of Genome Resources | ||||
| myofibrillar myopathy 7 | KY* | Ky | Alliance of Genome Resources | ||||
| myofibrillar myopathy 8 | PYROXD1* | Pyroxd1 | Alliance of Genome Resources | ||||
| myofibrillar myopathy 9 | TTN* | Ttn | Alliance of Genome Resources | ||||
| myoglobinuria | PGAM2* | Pgam2 | Alliance of Genome Resources | ||||
| myopathy, lactic acidosis, and sideroblastic anemia 1 | PUS1* | Pus1 | Alliance of Genome Resources | ||||
| myopathy, lactic acidosis, and sideroblastic anemia 2 | YARS2* | Yars2 | Alliance of Genome Resources | ||||
| myopathy with extrapyramidal signs | MICU1* | Micu1 | Alliance of Genome Resources | ||||
| myositis | HLA-DQB1*, HLA-DQB2 | H2-Ab1 | Alliance of Genome Resources | ||||
| myositis | HLA-DRB1*, HLA-DRB3, HLA-DRB4, HLA-DRB5 | H2-Eb1, H2-Eb2 | Alliance of Genome Resources | ||||
| myositis | HLA-DQA1*, HLA-DQA2 | H2-Aa | Alliance of Genome Resources | ||||
| myositis | FCGR3A*, FCGR3B | Fcgr4 | Alliance of Genome Resources | ||||
| myotonic dystrophy type 2 | CNBP* | Cnbp | Alliance of Genome Resources | ||||
| Native American myopathy | STAC3* | Stac3 | Alliance of Genome Resources | ||||
| nemaline myopathy | ANKRD1* | Ankrd1 | Alliance of Genome Resources | ||||
| nemaline myopathy 1 | TPM3* | Tpm3 | Alliance of Genome Resources | ||||
| nemaline myopathy 4 | TPM2* | Tpm2 | Alliance of Genome Resources | ||||
| nemaline myopathy 5B | TNNT1* | Tnnt1 | Alliance of Genome Resources | ||||
| nemaline myopathy 5C | TNNT1* | Tnnt1 | Alliance of Genome Resources | ||||
| nemaline myopathy 7 | CFL2* | Cfl2 | Alliance of Genome Resources | ||||
| nemaline myopathy 9 | KLHL41* | Klhl41 | Alliance of Genome Resources | ||||
| neurogenic scapuloperoneal syndrome Kaeser type | DES* | Des | Alliance of Genome Resources | ||||
| oculopharyngeal muscular dystrophy | PABPN1* | Pabpn1 | 1 model | Alliance of Genome Resources | |||
| oculopharyngodistal myopathy 1 | LRP12* | Lrp12 | Alliance of Genome Resources | ||||
| oculopharyngodistal myopathy 2 | GIPC1* | Gipc1 | Alliance of Genome Resources | ||||
| oculopharyngodistal myopathy 3 | NOTCH2NLC* | ||||||
| oculopharyngodistal myopathy 4 | RILPL1* | Rilpl1 | Alliance of Genome Resources | ||||
| polymyositis | PMS1* | Pms1 | Alliance of Genome Resources | ||||
| polymyositis | STAT4* | Stat4 | Alliance of Genome Resources | ||||
| polymyositis | ELN* | Eln | Alliance of Genome Resources | ||||
| reducing body myopathy 1A | FHL1* | Fhl1 | Alliance of Genome Resources | ||||
| reducing body myopathy 1B | FHL1* | Fhl1 | Alliance of Genome Resources | ||||
| sick sinus syndrome | HCN4* | Hcn4 | 1 model | Alliance of Genome Resources | |||
| sick sinus syndrome | ANK2* | Ank2 | Alliance of Genome Resources | ||||
| sick sinus syndrome | AGT* | Agt | Alliance of Genome Resources | ||||
| sick sinus syndrome | MYH6* | Myh6 | Alliance of Genome Resources | ||||
| Thomsen disease | CLCN1* | Clcn1 | Alliance of Genome Resources | ||||
| tubular aggregate myopathy 2 | ORAI1* | Orai1 | Alliance of Genome Resources | ||||
| Ullrich congenital muscular dystrophy | COL12A1* | Col12a1 | 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 | ||||
| Walker-Warburg syndrome | FKTN* | Fktn | 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 | ||||
| X-linked myopathy with excessive autophagy | VMA21* | Vma21 | Alliance of Genome Resources | ||||
Excel File
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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 | |
| centronuclear myopathy | Tg(Myh7-Pln)2Egk | 1 model | |
| dermatomyositis | Tg(Krt14-Angptl2)1Yo | 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 | |
| inclusion body myositis | Tg(Ckm-APPSw)A2Lfa | 1 model | |
| inclusion body myositis | Tg(Ckm-APPSw)A6Lfa | 1 model | |
| limb-girdle muscular dystrophy | Tg(Ckm-Sgcg)4Mcn | 1 model | |
| mitochondrial myopathy | Del(MTmt-Tk-mt-Nd5)1Jiha | 1 model | |
| myofibrillar myopathy 1 | Tg(Myh6-Des*)641Rbns | 1 model | |
| myofibrillar myopathy 2 | Tg(Myh6-Cryab*R120G)708Rbns | 1 model | |
| myofibrillar myopathy 2 | Tg(Myh6-CRYAB*R120G)7302Ijb | 1 model | |
| myofibrillar myopathy 3 | Tg(ACTA1-MYOT*T57I)71Mah | 1 model | |
| myofibrillar myopathy 6 | Tg(Myh6-BAG3*P209L)#Mswi | 1 model | |
| myopathy | Tg(Ckm-LPL)HRze | 1 model | |
| myopathy | Tg(Ckm-LPL)MRze | 1 model | |
| myopathy | Tg(Ckm-LPL)LRze | 1 model | |
| myositis | Tg(tetO-H2-K1)#Papl | 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 | |
| myotonic dystrophy type 1 | Tg(DMPK/tetO-EGFP/DMPK)5-313Masm | 1 model | |
| myotonic dystrophy type 1 | Tg(DM15)26Bew | 1 model | |
| myotonic dystrophy type 1 | Tg(Ckm-CUGBP1)1039Coop | 1 model | |
| myotonic dystrophy type 1 | Tg(CAG-DMPK*)1323Coop | 2 models | |
| myotonic dystrophy type 1 | Tg(HSA*LR)32bCath | 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)32aCath | 1 model | |
| myotonic dystrophy type 1 | Tg(HSA*LR)21Cath | 1 model | |
| myotonic dystrophy type 1 | Tg(HSA*LR)20bCath | 1 model | |
| nemaline myopathy 1 | Tg(ACTA1-TPM3*M9R)4Hrd | 1 model | |
| nemaline myopathy 3 | Tg(ACTA1*D286G/EGFP)#Kjno | 1 model | |
| nemaline myopathy 3 | Tg(ACTA1*D286G)#Kjno | 2 models | |
| oculopharyngeal muscular dystrophy | Tg(ACTA1-PABPN1*A17)1Drub | 1 model | |
| rippling muscle disease 2 | Tg(Ckmm-Cav3)1Ysu | 1 model | |