| Disease Term | Human Homologs | Mouse Homologs | Mouse Models | Homology Source | |||
  | Chanarin-Dorfman syndrome | ABHD5* | Abhd5* | 1 model | Alliance of Genome Resources | ||
| combined saposin deficiency | PSAP* | Psap* | 1 model | Alliance of Genome Resources | |||
| Fabry disease | GLA* | Gla* | 3 models | Alliance of Genome Resources | |||
| Farber lipogranulomatosis | ASAH1* | Asah1* | 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 | |||
| metabolic dysfunction-associated steatotic liver disease | LEPR* | Lepr* | 1 model | Alliance of Genome Resources | |||
| metabolic dysfunction-associated steatotic liver disease | PNPLA3* | Pnpla3* | 1 model | Alliance of Genome Resources | |||
| metachromatic leukodystrophy | ARSA* | Arsa* | 1 model | Alliance of Genome Resources | |||
| mucolipidosis II alpha/beta | GNPTAB* | Gnptab* | 4 models | Alliance of Genome Resources | |||
| mucolipidosis type IV | MCOLN1* | Mcoln1* | 1 model | Alliance of Genome Resources | |||
| mucosulfatidosis | SUMF1* | Sumf1* | 1 model | Alliance of Genome Resources | |||
| neuronal ceroid lipofuscinosis 1 | PPT1* | Ppt1* | 3 models | Alliance of Genome Resources | |||
| neuronal ceroid lipofuscinosis 10 | CTSD* | Ctsd* | 4 models | Alliance of Genome Resources | |||
| neuronal ceroid lipofuscinosis 2 | TPP1* | Tpp1* | 4 models | Alliance of Genome Resources | |||
| neuronal ceroid lipofuscinosis 3 | CLN3* | Cln3* | 7 models | Alliance of Genome Resources | |||
| neuronal ceroid lipofuscinosis 5 | CLN5* | Cln5* | 1 model | Alliance of Genome Resources | |||
| neuronal ceroid lipofuscinosis 6A | CLN6* | Cln6* | 1 model | Alliance of Genome Resources | |||
| neuronal ceroid lipofuscinosis 7 | MFSD8* | Mfsd8* | 1 model | Alliance of Genome Resources | |||
| neuronal ceroid lipofuscinosis 8 | CLN8* | Cln8* | 4 models | 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 | |||
| Wolman disease | LIPA* | Lipa* | 1 model | Alliance of Genome Resources | |||
| | glycoproteinosis | NEU1 | Neu1* | 2 models | Alliance of Genome Resources | ||
| Krabbe disease | PSAP | Psap* | 1 model | Alliance of Genome Resources | |||
| lysosomal acid lipase deficiency | LIPA | Lipa* | 1 model | Alliance of Genome Resources | |||
| metabolic dysfunction-associated steatohepatitis | MC4R | Mc4r* | 1 model | Alliance of Genome Resources | |||
| metabolic dysfunction-associated steatohepatitis | KRT18 | Krt18* | 1 model | Alliance of Genome Resources | |||
| metabolic dysfunction-associated steatotic liver disease | ALDH1L2 | Aldh1l2* | 1 model | Alliance of Genome Resources | |||
| metabolic dysfunction-associated steatotic liver disease | Iigp1c* | 3 models | |||||
| metabolic dysfunction-associated steatotic liver disease | LEP | Lep* | 1 model | Alliance of Genome Resources | |||
| metabolic dysfunction-associated steatotic liver disease | NLRP3 | Nlrp3* | 1 model | Alliance of Genome Resources | |||
| metabolic dysfunction-associated steatotic liver disease | PGRMC1 | Pgrmc1* | 1 model | Alliance of Genome Resources | |||
| metabolic dysfunction-associated steatotic liver disease | PPDPF | Ppdpf* | 1 model | Alliance of Genome Resources | |||
| metabolic dysfunction-associated steatotic liver disease | SIDT2 | Sidt2* | 1 model | Alliance of Genome Resources | |||
| metachromatic leukodystrophy | PSAP | Psap* | 1 model | Alliance of Genome Resources | |||
| neuronal ceroid lipofuscinosis | PPT2 | Ppt2* | 1 model | Alliance of Genome Resources | |||
| neuronal ceroid lipofuscinosis 3 | PPT1 | Ppt1* | 1 model | Alliance of Genome Resources | |||
| neuronal ceroid lipofuscinosis 3 | CLCN6 | Clcn6* | 1 model | Alliance of Genome Resources | |||
| neuronal ceroid lipofuscinosis 3 | CLCN3 | Clcn3* | 1 model | Alliance of Genome Resources | |||
| Niemann-Pick disease | fm* | 1 model | |||||
| Niemann-Pick disease | NPC1 | Npc1* | 17 models | Alliance of Genome Resources | |||
| steatotic liver disease | MC4R | Mc4r* | 1 model | Alliance of Genome Resources | |||
| steatotic liver disease | PTEN | Pten* | 2 models | Alliance of Genome Resources | |||
| steatotic liver disease | SIRT1 | Sirt1* | 1 model | Alliance of Genome Resources | |||
| steatotic liver disease | ADK | Adk* | 1 model | Alliance of Genome Resources | |||
| steatotic liver disease | IKBKG | Ikbkg* | 1 model | Alliance of Genome Resources | |||
| steatotic liver disease | LRP6 | Lrp6* | 1 model | Alliance of Genome Resources | |||
| steatotic liver disease | PLAU | Plau* | 1 model | Alliance of Genome Resources | |||
| steatotic liver disease | LDLR | Ldlr* | 1 model | Alliance of Genome Resources | |||
| steatotic liver disease | LEP | Lep* | 1 model | Alliance of Genome Resources | |||
| steatotic liver disease | LGALS3 | Lgals3* | 1 model | Alliance of Genome Resources | |||
| | atypical Gaucher's disease due to saposin c deficiency | PSAP* | Psap | Alliance of Genome Resources | |||
| cerebrotendinous xanthomatosis | CYP27A1* | Cyp27a1 | Alliance of Genome Resources | ||||
| cholesterol ester storage disease | LIPA* | Lipa | Alliance of Genome Resources | ||||
| Fabry disease | VDR* | Vdr | Alliance of Genome Resources | ||||
| Fabry disease | ACE* | Ace | Alliance of Genome Resources | ||||
| Fabry disease | AGT* | Agt | Alliance of Genome Resources | ||||
| Fabry disease | IL1A* | Il1a | Alliance of Genome Resources | ||||
| Gaucher's disease | PKLR* | Pklr | Alliance of Genome Resources | ||||
| Gaucher's disease | TNF* | Tnf | 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 | ||||
| glycoproteinosis | MCOLN1* | Mcoln1 | Alliance of Genome Resources | ||||
| glycoproteinosis | GNPTG* | Gnptg | 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 | ||||
| metabolic dysfunction-associated steatohepatitis | IL10* | Il10 | Alliance of Genome Resources | ||||
| metabolic dysfunction-associated steatohepatitis | LEPR* | Lepr | Alliance of Genome Resources | ||||
| metabolic dysfunction-associated steatohepatitis | APOA1* | Apoa1 | Alliance of Genome Resources | ||||
| metabolic dysfunction-associated steatohepatitis | SERPINF1* | Serpinf1 | Alliance of Genome Resources | ||||
| metabolic dysfunction-associated steatohepatitis | SOD2* | Sod2 | Alliance of Genome Resources | ||||
| metabolic dysfunction-associated steatohepatitis | IL6* | Il6 | Alliance of Genome Resources | ||||
| metabolic dysfunction-associated steatohepatitis | HTR2B* | Htr2b | Alliance of Genome Resources | ||||
| metabolic dysfunction-associated steatotic liver disease | ABCC2* | Abcc2 | Alliance of Genome Resources | ||||
| metabolic dysfunction-associated steatotic liver disease | ADIPOQ* | Adipoq | Alliance of Genome Resources | ||||
| metabolic dysfunction-associated steatotic liver disease | ADIPOR2* | Adipor2 | Alliance of Genome Resources | ||||
| metabolic dysfunction-associated steatotic liver disease | ADRB3* | Adrb3 | Alliance of Genome Resources | ||||
| metabolic dysfunction-associated steatotic liver disease | AKT1* | Akt1 | Alliance of Genome Resources | ||||
| metabolic dysfunction-associated steatotic liver disease | ALDH2* | Aldh2 | Alliance of Genome Resources | ||||
| metabolic dysfunction-associated steatotic liver disease | CCR2* | Ccr2 | Alliance of Genome Resources | ||||
| metabolic dysfunction-associated steatotic liver disease | DGAT2* | Dgat2 | Alliance of Genome Resources | ||||
| metabolic dysfunction-associated steatotic liver disease | HFE* | Hfe | Alliance of Genome Resources | ||||
| metabolic dysfunction-associated steatotic liver disease | IFNL4* | ||||||
| metabolic dysfunction-associated steatotic liver disease | IL1B* | Il1b | Alliance of Genome Resources | ||||
| metabolic dysfunction-associated steatotic liver disease | IL6* | Il6 | Alliance of Genome Resources | ||||
| metabolic dysfunction-associated steatotic liver disease | MTHFR* | Mthfr | Alliance of Genome Resources | ||||
| metabolic dysfunction-associated steatotic liver disease | MTTP* | Mttp | Alliance of Genome Resources | ||||
| metabolic dysfunction-associated steatotic liver disease | PPARGC1A* | Ppargc1a | Alliance of Genome Resources | ||||
| metabolic dysfunction-associated steatotic liver disease | SAMM50* | Samm50 | Alliance of Genome Resources | ||||
| metabolic dysfunction-associated steatotic liver disease | SOD2* | Sod2 | Alliance of Genome Resources | ||||
| metabolic dysfunction-associated steatotic liver disease | TG* | Tg | Alliance of Genome Resources | ||||
| metachromatic leukodystrophy | MAL* | Mal | Alliance of Genome Resources | ||||
| mucolipidosis | NEU1* | Neu1 | Alliance of Genome Resources | ||||
| mucolipidosis III alpha/beta | GNPTAB* | Gnptab | Alliance of Genome Resources | ||||
| mucolipidosis III gamma | GNPTG* | Gnptg | Alliance of Genome Resources | ||||
| neuronal ceroid lipofuscinosis | CLN6* | Cln6 | Alliance of Genome Resources | ||||
| neuronal ceroid lipofuscinosis | SOD2* | Sod2 | Alliance of Genome Resources | ||||
| neuronal ceroid lipofuscinosis 11 | GRN* | Grn | Alliance of Genome Resources | ||||
| neuronal ceroid lipofuscinosis 13 | CTSF* | Ctsf | Alliance of Genome Resources | ||||
| neuronal ceroid lipofuscinosis 4 | DNAJC5* | Dnajc5 | Alliance of Genome Resources | ||||
| neuronal ceroid lipofuscinosis 6B | CLN6* | Cln6 | Alliance of Genome Resources | ||||
| neuronal ceroid lipofuscinosis 8 northern epilepsy variant | CLN8* | Cln8 | 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 | ||||
| Siddiqi syndrome | FITM2* | Fitm2 | Alliance of Genome Resources | ||||
| sphingolipidosis | ASAH1* | Asah1 | Alliance of Genome Resources | ||||
| steatotic liver disease | ADRB2* | Adrb2 | Alliance of Genome Resources | ||||
| steatotic liver disease | CYP2E1* | Cyp2e1 | Alliance of Genome Resources | ||||
| steatotic liver disease | HADHA* | Hadha | Alliance of Genome Resources | ||||
| steatotic liver disease | HTR2A* | Htr2a | Alliance of Genome Resources | ||||
| steatotic liver disease | HTR2B* | Htr2b | Alliance of Genome Resources | ||||
| steatotic liver disease | MTHFR* | Mthfr | Alliance of Genome Resources | ||||
| steatotic liver disease | PNPLA3* | Pnpla3 | Alliance of Genome Resources | ||||
| steatotic liver disease | PRKCD* | Prkcd | Alliance of Genome Resources | ||||
| steatotic liver disease | VDR* | Vdr | 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 | |
| metabolic dysfunction-associated steatotic liver disease | Tg(aP2-SREBF1c)9884Reh | 1 model | |
| metabolic dysfunction-associated steatotic liver disease | Tg(Alb-SREBF1_ic)#Jkot | 1 model | |
| Sandhoff disease | Tg(Hexb-tTA2S,tetO-Hexb)#Tjsa | 1 model | |
| Sandhoff disease | Tg(SYN1-tTA2S,tetO-Hexb)#Tjsa | 1 model | |
| steatotic liver disease | Tg(Alb-PDGFC)#Jcam | 1 model | |
| steatotic liver disease | Tg(Mup3-Plau)350-2Eps | 1 model | |