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
     combined saposin deficiency PSAP* Psap* 1 model Alliance of Genome Resources
Fabry disease GLA* Gla* 3 models Alliance of Genome Resources
Gaucher's disease type I GBA1* Gba* 5 models Alliance of Genome Resources
Gaucher's disease type II GBA1* Gba* 2 models Alliance of Genome Resources
GM2 gangliosidosis, AB variant GM2A* Gm2a* 1 model Alliance of Genome Resources
Krabbe disease GALC* Galc* 3 models Alliance of Genome Resources
metachromatic leukodystrophy PSAP* Psap* 1 model Alliance of Genome Resources
metachromatic leukodystrophy ARSA* Arsa* 1 model Alliance of Genome Resources
mucosulfatidosis SUMF1* Sumf1* 1 model Alliance of Genome Resources
Niemann-Pick disease type C1 NPC1* Npc1* 2 models Alliance of Genome Resources
Sandhoff disease HEXB* Hexb* 9 models Alliance of Genome Resources
Tay-Sachs disease HEXA* Hexa* 3 models Alliance of Genome Resources
     Gaucher's disease GBA1 Gba* 9 models Alliance of Genome Resources
GM1 gangliosidosis GLB1 Glb1* 3 models Alliance of Genome Resources
Krabbe disease PSAP Psap* 1 model Alliance of Genome Resources
Niemann-Pick disease SMPD1 Smpd1* 2 models Alliance of Genome Resources
Niemann-Pick disease NPC2 Npc2* 3 models Alliance of Genome Resources
Niemann-Pick disease NPC1 Npc1* 17 models Alliance of Genome Resources
Niemann-Pick disease fm* 1 model
     atypical Gaucher's disease due to saposin c deficiency PSAP* Psap   Alliance of Genome Resources
Gaucher's disease perinatal lethal GBA1* Gba   Alliance of Genome Resources
Gaucher's disease type III GBA1* Gba   Alliance of Genome Resources
Gaucher's disease type IIIC GBA1* Gba   Alliance of Genome Resources
GM1 gangliosidosis type 1 GLB1* Glb1   Alliance of Genome Resources
GM1 gangliosidosis type 2 GLB1* Glb1   Alliance of Genome Resources
GM1 gangliosidosis type 3 GLB1* Glb1   Alliance of Genome Resources
Niemann-Pick disease type A SMPD1* Smpd1   Alliance of Genome Resources
Niemann-Pick disease type B SMPD1* Smpd1   Alliance of Genome Resources
Niemann-Pick disease type C2 NPC2* Npc2   Alliance of Genome Resources
sea-blue histiocytosis APOE* Apoe   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
  Sandhoff disease Tg(SYN1-tTA2S,tetO-Hexb)#Tjsa 1 model
  Sandhoff disease Tg(Hexb-tTA2S,tetO-Hexb)#Tjsa 1 model