| 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 | GBA1* | Gba1* | 9 models | Alliance of Genome Resources | |||
| Gaucher's disease type I | GBA1* | Gba1* | 6 models | Alliance of Genome Resources | |||
| Gaucher's disease type II | GBA1* | Gba1* | 2 models | Alliance of Genome Resources | |||
| GM1 gangliosidosis | GLB1* | Glb1* | 3 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 | ARSA* | Arsa* | 1 model | Alliance of Genome Resources | |||
| mucosulfatidosis | SUMF1* | Sumf1* | 1 model | Alliance of Genome Resources | |||
| Niemann-Pick disease | NPC2* | Npc2* | 3 models | Alliance of Genome Resources | |||
| Niemann-Pick disease | SMPD1* | Smpd1* | 2 models | 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 | |||
| | Krabbe disease | PSAP | Psap* | 1 model | Alliance of Genome Resources | ||
| metachromatic leukodystrophy | PSAP | Psap* | 1 model | Alliance of Genome Resources | |||
| Niemann-Pick disease | fm* | 1 model | |||||
| Niemann-Pick disease | NPC1 | Npc1* | 17 models | Alliance of Genome Resources | |||
| | atypical Gaucher's disease due to saposin c deficiency | PSAP* | Psap | Alliance of Genome Resources | |||
| Fabry disease | VDR* | Vdr | Alliance of Genome Resources | ||||
| Fabry disease | IL1A* | Il1a | Alliance of Genome Resources | ||||
| Fabry disease | AGT* | Agt | Alliance of Genome Resources | ||||
| Fabry disease | ACE* | Ace | Alliance of Genome Resources | ||||
| Gaucher's disease | TNF* | Tnf | Alliance of Genome Resources | ||||
| Gaucher's disease | PKLR* | Pklr | Alliance of Genome Resources | ||||
| Gaucher's disease perinatal lethal | GBA1* | Gba1 | Alliance of Genome Resources | ||||
| Gaucher's disease type III | GBA1* | Gba1 | Alliance of Genome Resources | ||||
| Gaucher's disease type IIIC | GBA1* | Gba1 | 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 | ||||
| GM2 gangliosidosis | GM2A* | Gm2a | Alliance of Genome Resources | ||||
| metachromatic leukodystrophy | MAL* | Mal | 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 | ||||
| sphingolipidosis | ASAH1* | Asah1 | 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 | |
| Sandhoff disease | Tg(SYN1-tTA2S,tetO-Hexb)#Tjsa | 1 model | |
| Sandhoff disease | Tg(Hexb-tTA2S,tetO-Hexb)#Tjsa | 1 model | |