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
     adrenoleukodystrophy ABCD1* Abcd1* 9 models Alliance of Genome Resources
adult-onset autosomal dominant demyelinating leukodystrophy LMNB1* Lmnb1* 1 model Alliance of Genome Resources
Alexander disease GFAP* Gfap* 4 models Alliance of Genome Resources
CADASIL 1 NOTCH3* Notch3* 6 models Alliance of Genome Resources
Canavan disease ASPA* Aspa* 4 models Alliance of Genome Resources
hypomyelinating leukodystrophy 2 GJC2* Gjc2* 3 models Alliance of Genome Resources
hypomyelinating leukodystrophy 6 TUBB4A* Tubb4a* 3 models Alliance of Genome Resources
leukoencephalopathy with vanishing white matter EIF2B5* Eif2b5* 7 models Alliance of Genome Resources
megalencephalic leukoencephalopathy with subcortical cysts 1 MLC1* Mlc1* 1 model Alliance of Genome Resources
normal pressure hydrocephalus CFAP43* Cfap43* 1 model Alliance of Genome Resources
Pelizaeus-Merzbacher disease PLP1* Plp1* 8 models Alliance of Genome Resources
     Canavan disease SOD2 Sod2* 1 model Alliance of Genome Resources
hydrocephalus SOX3 Sox3* 1 model Alliance of Genome Resources
hydrocephalus ADD1 Add1* 1 model Alliance of Genome Resources
hydrocephalus AK7 Ak7* 1 model Alliance of Genome Resources
hydrocephalus AK8 Ak8* 1 model Alliance of Genome Resources
hydrocephalus CCDC39 Ccdc39* 1 model Alliance of Genome Resources
hydrocephalus CCDC85C Ccdc85c* 1 model Alliance of Genome Resources
hydrocephalus CELSR2 Celsr2* 1 model Alliance of Genome Resources
hydrocephalus DPCD Dpcd* 1 model Alliance of Genome Resources
hydrocephalus E2F5 E2f5* 1 model Alliance of Genome Resources
hydrocephalus HYDIN Hydin* 1 model Alliance of Genome Resources
hydrocephalus KIF27 Kif27* 1 model Alliance of Genome Resources
hydrocephalus MBOAT7 Mboat7* 1 model Alliance of Genome Resources
hydrocephalus NME5 Nme5* 1 model Alliance of Genome Resources
hydrocephalus NME7 Nme7* 1 model Alliance of Genome Resources
hydrocephalus POMK Pomk* 1 model Alliance of Genome Resources
hydrocephalus STK36 Stk36* 1 model Alliance of Genome Resources
hydrocephalus ULK4 Ulk4* 1 model Alliance of Genome Resources
leukodystrophy CLCN2 Clcn2* 1 model Alliance of Genome Resources
leukoencephalopathy with vanishing white matter EIF2B4 Eif2b4* 4 models Alliance of Genome Resources
megalencephalic leukoencephalopathy with subcortical cysts HEPACAM Hepacam* 1 model Alliance of Genome Resources
neuroaxonal dystrophy BORCS7 Borcs7* 1 model Alliance of Genome Resources
normal pressure hydrocephalus AK9 Ak9* 1 model Alliance of Genome Resources
normal pressure hydrocephalus p23-ST1* 1 model
normal pressure hydrocephalus CWH43 Cwh43* 3 models Alliance of Genome Resources
obstructive hydrocephalus MYO9A Myo9a* 1 model Alliance of Genome Resources
     adult-onset leukoencephalopathy with axonal spheroids and pigmented glia CSF1R* Csf1r   Alliance of Genome Resources
CADASIL HTRA1* Htra1   Alliance of Genome Resources
CADASIL 2 HTRA1* Htra1   Alliance of Genome Resources
hydrocephalus CCDC88C* Ccdc88c   Alliance of Genome Resources
hydrocephalus L1CAM* L1cam   Alliance of Genome Resources
hydrocephalus MPDZ* Mpdz   Alliance of Genome Resources
hydrocephalus SMARCC1* Smarcc1   Alliance of Genome Resources
hydrocephalus TRIM71* Trim71   Alliance of Genome Resources
hydrocephalus WDR81* Wdr81   Alliance of Genome Resources
hypomyelinating leukodystrophy 10 PYCR2* Pycr2   Alliance of Genome Resources
hypomyelinating leukodystrophy 11 POLR1C* Polr1c   Alliance of Genome Resources
hypomyelinating leukodystrophy 12 VPS11* Vps11   Alliance of Genome Resources
hypomyelinating leukodystrophy 13 HIKESHI* Hikeshi   Alliance of Genome Resources
hypomyelinating leukodystrophy 14 UFM1* Ufm1   Alliance of Genome Resources
hypomyelinating leukodystrophy 15 EPRS1* Eprs1   Alliance of Genome Resources
hypomyelinating leukodystrophy 16 TMEM106B* Tmem106b   Alliance of Genome Resources
hypomyelinating leukodystrophy 17 AIMP2* Aimp2   Alliance of Genome Resources
hypomyelinating leukodystrophy 18 DEGS1* Degs1, Degs1l   Alliance of Genome Resources
hypomyelinating leukodystrophy 19 TMEM63A* Tmem63a   Alliance of Genome Resources
hypomyelinating leukodystrophy 20 CNP* Cnp   Alliance of Genome Resources
hypomyelinating leukodystrophy 21 POLR3K* Polr3k   Alliance of Genome Resources
hypomyelinating leukodystrophy 22 CLDN11* Cldn11   Alliance of Genome Resources
hypomyelinating leukodystrophy 23 RNF220* Rnf220   Alliance of Genome Resources
hypomyelinating leukodystrophy 24 ATP11A* Atp11a   Alliance of Genome Resources
hypomyelinating leukodystrophy 25 TMEM163* Tmem163   Alliance of Genome Resources
hypomyelinating leukodystrophy 26 SLC35B2* Slc35b2   Alliance of Genome Resources
hypomyelinating leukodystrophy 3 AIMP1* Aimp1   Alliance of Genome Resources
hypomyelinating leukodystrophy 4 HSPD1* Hspd1   Alliance of Genome Resources
hypomyelinating leukodystrophy 5 HYCC1* Hycc1   Alliance of Genome Resources
hypomyelinating leukodystrophy 7 POLR3A* Polr3a 2 "NOT" models Alliance of Genome Resources
hypomyelinating leukodystrophy 8 POLR3B* Polr3b   Alliance of Genome Resources
hypomyelinating leukodystrophy 9 RARS1* Rars1   Alliance of Genome Resources
leukodystrophy AARS1* Aars1   Alliance of Genome Resources
leukoencephalopathy with vanishing white matter EIF2B2* Eif2b2   Alliance of Genome Resources
leukoencephalopathy with vanishing white matter 1 EIF2B1* Eif2b1   Alliance of Genome Resources
leukoencephalopathy with vanishing white matter 2 EIF2B2* Eif2b2   Alliance of Genome Resources
leukoencephalopathy with vanishing white matter 3 EIF2B3* Eif2b3   Alliance of Genome Resources
leukoencephalopathy with vanishing white matter 4 EIF2B4* Eif2b4   Alliance of Genome Resources
leukoencephalopathy with vanishing white matter 5 EIF2B5* Eif2b5   Alliance of Genome Resources
megalencephalic leukoencephalopathy with subcortical cysts GPRC5B* Gprc5b   Alliance of Genome Resources
megalencephalic leukoencephalopathy with subcortical cysts AQP4* Aqp4   Alliance of Genome Resources
megalencephalic leukoencephalopathy with subcortical cysts 2A HEPACAM* Hepacam   Alliance of Genome Resources
megalencephalic leukoencephalopathy with subcortical cysts 2B HEPACAM* Hepacam   Alliance of Genome Resources
neuroaxonal dystrophy NAGA* Naga   Alliance of Genome Resources
neuroaxonal dystrophy PLA2G6* Pla2g6   Alliance of Genome Resources
progressive leukoencephalopathy with ovarian failure AARS2* Aars2   Alliance of Genome Resources
RNASET2-deficient cystic leukoencephalopathy RNASET2* Rnaset2a, Rnaset2b   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
  adult-onset autosomal dominant demyelinating leukodystrophy Tg(Plp1-LMNB1)1108Qsp 1 model
  adult-onset autosomal dominant demyelinating leukodystrophy Tg(Plp1-Lmnb1)#Yfu 1 model
  adult-onset autosomal dominant demyelinating leukodystrophy Tg(Lmnb1)1Yfu 1 model
  Alexander disease Tg(GFAP)10Mes 3 models
  Alexander disease Tg(GFAP)7Mes 1 model
  Alexander disease Tg(Gfap-GFAP*R239H)60TMIke 1 model
  CADASIL 1 Tg(Notch3*R169C)88Bbb 1 model
  hydrocephalus Tg(Sox3)1Pqt 1 model
  leukoencephalopathy with vanishing white matter Tg(Plp1-Eif2ak3*)18Pop 1 model
  Pelizaeus-Merzbacher disease Tg(Plp)66Kan 2 models
  Pelizaeus-Merzbacher disease Tg(Plp)72Kan 1 model
  Pelizaeus-Merzbacher disease Dp(XTceal3-Plp1)1Gmh 1 model