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
     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
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
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
Ullrich congenital muscular dystrophy COL6A3* Col6a3* 1 model 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
     congenital muscular dystrophy COL6A3 Col6a3* 1 model 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 ZMPSTE24 Zmpste24* 1 model Alliance of Genome Resources
Emery-Dreifuss muscular dystrophy SYNE1 Syne1* 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
limb-girdle muscular dystrophy SGCG Sgcg* 1 model Alliance of Genome Resources
muscular dystrophy-dystroglycanopathy type B1 B4GAT1 B4gat1* 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 FKTN Fktn* 3 models Alliance of Genome Resources
muscular dystrophy-dystroglycanopathy type B1 LARGE1 Large1* 3 models Alliance of Genome Resources
myotonic disease MBNL1 Mbnl1* 2 models Alliance of Genome Resources
scapuloperoneal myopathy FHL1 Fhl1* 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 JAG2* Jag2   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 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
Bethlem myopathy COL12A1* Col12a1   Alliance of Genome Resources
Bethlem myopathy COL6A3* Col6a3   Alliance of Genome Resources
Bethlem myopathy COL6A2* Col6a2   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
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
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 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 CAV3* Cav3   Alliance of Genome Resources
muscular dystrophy CAPN3* Capn3   Alliance of Genome Resources
muscular dystrophy COL6A3* Col6a3   Alliance of Genome Resources
muscular dystrophy POMGNT1* Pomgnt1   Alliance of Genome Resources
muscular dystrophy POMT2* Pomt2   Alliance of Genome Resources
muscular dystrophy SGCA* Sgca   Alliance of Genome Resources
muscular dystrophy LAMA2* Lama2   Alliance of Genome Resources
muscular dystrophy FKTN* Fktn   Alliance of Genome Resources
muscular dystrophy CHKB* Chkb   Alliance of Genome Resources
muscular dystrophy DYSF* Dysf   Alliance of Genome Resources
muscular dystrophy MYOT* Myot   Alliance of Genome Resources
muscular dystrophy POMT1* Pomt1   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
oculopharyngeal muscular dystrophy PABPN1* Pabpn1 1 model Alliance of Genome Resources
Ullrich congenital muscular dystrophy COL12A1* Col12a1   Alliance of Genome Resources
Ullrich congenital muscular dystrophy COL6A2* Col6a2   Alliance of Genome Resources
Walker-Warburg syndrome FKTN* Fktn   Alliance of Genome Resources
Walker-Warburg syndrome POMT1* Pomt1   Alliance of Genome Resources
Walker-Warburg syndrome POMT2* Pomt2   Alliance of Genome Resources
Walker-Warburg syndrome FKRP* Fkrp   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.
     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
  Duchenne muscular dystrophy Tg(ACTA1-Ctss)1Jmol 1 model
  facioscapulohumeral muscular dystrophy Tg(ACTA1-FRG1)highRotu 1 model
  facioscapulohumeral muscular dystrophy Tg(ACTA1-FRG1)medRotu 1 model
  limb-girdle muscular dystrophy Tg(Ckm-Sgcg)4Mcn 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(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(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(DM15)26Bew 1 model
  myotonic dystrophy type 1 Tg(CAG-DMPK*)1323Coop 2 models
  oculopharyngeal muscular dystrophy Tg(ACTA1-PABPN1*A17)1Drub 1 model