Excel File Text File All mouse models of lysosomal storage disease with phenotypic similarity to the human disease
        Disease Term Allelic Composition Genetic Background Reference Phenotypes
      alpha-mannosidosis Man2b1tm1Psa/Man2b1tm1Psa involves: 129 * C57BL/6J J:56659, J:99812 View
aspartylglucosaminuria Agatm1Vk/Agatm1Vk involves: 129S1/Sv * 129X1/SvJ * Black Swiss J:37022 View
aspartylglucosaminuria Agatm1Pltn/Agatm1Pltn involves: 129S4/SvJae * C57BL/6 J:45587 View
beta-mannosidosis Manbatm1Khf/Manbatm1Khf B6.129-Manbatm1Khf J:105427 View
cystinosis Ctnstm1Antc/Ctnstm1Antc involves: 129/Sv * C57BL/6 J:79610 View
Danon disease Lamp2tm1Psa/Lamp2tm1Psa either: (involves: 129P2/OlaHsd * 129/Sv * C57BL/6J) or (involves: 129P2/OlaHsd * 129/Sv) J:64151 View
Fabry disease Glatm1Kul/Y involves: 129S4/SvJae * C57BL/6 J:39394, J:187258 View
Fabry disease Glatm1Kul/Glatm1Kul
Tg(A4GALT)#Sais/0
involves: 129S4/SvJae * C57BL/6 * C57BL/6JJms J:206001 View
Fabry disease Glatm1Kul/Y
Tg(A4GALT)#Sais/0
involves: 129S4/SvJae * C57BL/6 * C57BL/6JJms J:206001 View
Farber lipogranulomatosis Asah1tm1Esc/Asah1+ involves: 129S1/Sv * C57BL/6 J:74647 View
Farber lipogranulomatosis Asah1tm1Medin/Asah1tm1Medin involves: 129S6/SvEvTac * CD-1 J:232306 View
fucosidosis Fuca1tm1Tlub/Fuca1tm1Tlub involves: 129S2/SvPas * C57BL/6 J:235359 View
gangliosidosis GM1 Glb1tm1Adz/Glb1tm1Adz involves: 129/Sv * C57BL/6 J:98543 View
gangliosidosis GM1 Glb1tm1Adz/Glb1tm1Adz involves: 129P2/OlaHsd J:38620 View
gangliosidosis GM1 Glb1tm1Jmat/Glb1tm1Jmat involves: C57BL/6 * CBA * ICR J:40522, J:43534 View
Gaucher's disease type I Gbatm1.1Karl/Gbatm1.1Karl involves: 129S1/Sv * 129X1/SvJ J:113751 View
Gaucher's disease type I Gbatm1Clk/Gbatm1.1Clk
Tg(Tek-cre)12Flv/0
involves: 129S1/Sv * 129X1/SvJ * C3H * C57BL/6J J:117763 View
Gaucher's disease type I Gbatm1Karl/Gbatm1.1Karl
Tg(Mx1-cre)1Cgn/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA J:113751 View
Gaucher's disease type I Gbatm1.1Pmis/Gbatm1.1Pmis
Tg(Mx1-cre)1Cgn/0
involves: C57BL/6 * CBA J:167081 View
Gaucher's disease type I Gbatm1.1Pmis/Gbatm1.2Pmis
Tg(Mx1-cre)1Cgn/0
involves: C57BL/6 * CBA J:167081 View
Gaucher's disease type II Gbatm2Karl/Gbatm2Karl
Tg(KRT14-cre)8Brn/?
involves: 129S1/Sv * 129X1/SvJ * FVB/N J:127108 View
Gaucher's disease type II Gbatm1Nsb/Gbatm1Nsb involves: 129S/SvEv * C57BL/6 J:1100 View
glycoproteinosis Neu1tm1Adz/Neu1tm1Adz either: (involves: 129S1/Sv * C57BL/6) or (involves: 129S1/Sv * NMRI) J:76937 View
glycoproteinosis Neu1a/Neu1a SM/J J:77236 View
inclusion-cell disease Gnptabtm1Kkol/Gnptabtm1Kkol involves: 129 * C57BL/6 J:202751 View
inclusion-cell disease Gnptabtm1Dkji/Gnptabtm1Dkji involves: 129 * C57BL/6 J:231531 View
inclusion-cell disease GnptabGt(OST97730)Lex/GnptabGt(OST97730)Lex involves: 129S5/SvEvBrd * C57BL/6J J:127156 View
inclusion-cell disease Gnptabnym/Gnptabnym involves: BALB/cAnNHsd * C3H/HeNHsd J:218156 View
Krabbe disease Galctwi/Galctwi B6.CE-Galctwi/J J:6390, J:6423, J:165361, J:170081 View
Krabbe disease Galctm1Wngr/Galctm1Wngr involves: 129S2/SvPas J:78691 View
metachromatic leukodystrophy Arsatm1Gie/Arsatm1Gie involves: 129P2/OlaHsd * C57BL/6J J:37978, J:52310 View
metachromatic leukodystrophy Psaptm2Ggb/Psaptm2Ggb involves: 129S/SvEv * C57BL/6J J:137650 View
mucopolysaccharidosis I Iduatm1.1Kmke/Iduatm1.1Kmke B6.129-Iduatm1.1Kmke J:155619 View
mucopolysaccharidosis I Iduatm1Clk/Iduatm1Clk B6.129-Iduatm1Clk/J J:130215 View
mucopolysaccharidosis I Iduatm1Clk/Iduatm1Clk involves: 129S1/Sv * 129X1/SvJ J:39522, J:47999 View
mucopolysaccharidosis I Iduatm1Efn/Iduatm1Efn involves: C57BL/6 J:81974, J:117424, J:101932 View
mucopolysaccharidosis I Prkdcscid/Prkdcscid
Iduatm1Clk/Iduatm1Clk
NOD.129(B6)-Prkdcscid Iduatm1Clk/J J:139626 View
mucopolysaccharidosis II Idstm1Muen/Y involves: C57BL/6 J:259752 View
mucopolysaccharidosis II Idstm1Eto/Idstm1Eto involves: C57BL/6 J:188058 View
mucopolysaccharidosis II Idstm1Muen/Y Not Specified J:108761, J:108242 View
mucopolysaccharidosis III Gnstm1e(EUCOMM)Hmgu/Gnstm1e(EUCOMM)Hmgu C57BL/6N-Atm1Brd Gnstm1e(EUCOMM)Hmgu J:242250 View
mucopolysaccharidosis III Naglutm1Efn/Naglutm1Efn either: (involves: 129S/SvEv * C57BL/6) or (involves: C57BL/6) J:58950 View
mucopolysaccharidosis III Naglutm1Efn/Naglutm1Efn involves: 129S/SvEv * C57BL/6 J:81974 View
mucopolysaccharidosis III Naglutm1Efn/Naglutm1Efn involves: 129S/SvEv * C57BL/6J J:129390 View
mucopolysaccharidosis III Sgshmps3a/Sgshmps3a involves: 129X1/SvJ * CD-1 * C57BL/6 * SJL J:72142 View
mucopolysaccharidosis III Hgsnattm1a(EUCOMM)Wtsi/Hgsnattm1a(EUCOMM)Wtsi involves: C57BL/6N * C57BL/6NTac J:235361 View
mucopolysaccharidosis IV Galnstm1Toma/Galnstm1Toma involves: 129X1/SvJ * C57BL/6 J:87155 View
mucopolysaccharidosis IV Galnstm2(GALNS)Toma/Galnstm2(GALNS)Toma involves: 129X1/SvJ * C57BL/6 J:104126 View
mucopolysaccharidosis IX Hyal1tm1Stn/Hyal1tm1Stn involves: 129X1/SvJ * C57BL/6J J:136860 View
mucopolysaccharidosis VI Arsbm1J/Arsbm1J C57BL/6J-Arsbm1J/GrsrJ J:149960 View
mucopolysaccharidosis VI Arsbtm1Cptr/Arsbtm1Cptr involves: 129P2/OlaHsd * 129S2/SvPas J:102290 View
mucopolysaccharidosis VI Arsbtm1Cptr/Arsbtm1Cptr involves: 129P2/OlaHsd * C57BL/6J J:34831 View
mucosulfatidosis Sumf1Gt(RST760)Byg/Sumf1Gt(RST760)Byg involves: 129P2/OlaHsd * C57BL/6 J:120146 View
neuronal ceroid lipofuscinosis 1 Ppt1tm1Hof/Ppt1tm1Hof involves: 129P2/OlaHsd * 129S2/SvPas * 129S6/SvEvTac * C57BL/6 J:177265 View
neuronal ceroid lipofuscinosis 1 Ppt1tm1Aj/Ppt1tm1Aj involves: 129S4/SvJae * C57BL/6 J:95522 View
neuronal ceroid lipofuscinosis 1 Ppt1tm1.1Dprc/Ppt1tm1.1Dprc involves: 129S6/SvEvTac * BALB/cJ * C57BL/6 J:213552 View
neuronal ceroid lipofuscinosis 2 Tpp1tm1Plob/Tpp1tm1Plob B6.129S1-Tpp1tm1Plob J:136105 View
neuronal ceroid lipofuscinosis 2 Tpp1tm1Plob/Tpp1tm1.1Plob B6.129S1-Tpp1tm1Plob/Tpp1tm1.1Plob J:136105 View
neuronal ceroid lipofuscinosis 2 Tpp1tm1Plob/Tpp1tm1Plob involves: 129S1/Sv * C57BL/6 J:94884 View
neuronal ceroid lipofuscinosis 2 Tpp1m1J/Tpp1m1J STOCK Tpp1m1J/GrsrJ J:201119 View
neuronal ceroid lipofuscinosis 3 Cln3tm1Nbm/Cln3tm1Nbm 129S6/SvEvTac-Cln3tm1Nbm J:109790 View
neuronal ceroid lipofuscinosis 3 Cln3tm1Blda/Cln3tm1Blda B6.129-Cln3tm1Blda J:125194 View
neuronal ceroid lipofuscinosis 3 Cln3tm1Nbm/Cln3tm1Nbm involves: 129S6/SvEvTac * C57BL/6J J:233445 View
neuronal ceroid lipofuscinosis 3 Cln3tm1Nbm/Cln3tm1Nbm involves: 129S6/SvEvTac * NIH Black Swiss J:58230 View
neuronal ceroid lipofuscinosis 3 Cln3tm1.1Mem/Cln3tm1.1Mem involves: 129S/SvEv * CD-1 J:79615 View
neuronal ceroid lipofuscinosis 3 Cln3tm1Mkat/Cln3tm1Mkat involves: 129X1/SvJ * C57BL/6J J:57155 View
neuronal ceroid lipofuscinosis 5 Cln5tm1Pltn/Cln5tm1Pltn involves: 129X1/SvJ * C57BL/6 J:94383 View
neuronal ceroid lipofuscinosis 6 Cln6nclf/Cln6nclf involves: C57BL/6J * C57BL/10J * C3HeB/FeJLe J:73923 View
neuronal ceroid lipofuscinosis 7 Mfsd8tm1a(EUCOMM)Hmgu/Mfsd8tm1a(EUCOMM)Hmgu involves: C57BL/6N J:211608 View
neuronal ceroid lipofuscinosis 8 Cln8mnd/Cln8mnd AK.B6(Cg)-Cln8mnd J:56219 View
neuronal ceroid lipofuscinosis 8 Cln8mnd/Cln8mnd B6.KB2/Rn-Cln8mnd J:12816, J:56219 View
neuronal ceroid lipofuscinosis 8 Cln8mnd/Cln8mnd involves: AKR/J * B6.KB2 J:56219 View
neuronal ceroid lipofuscinosis 8 Cln8mnd/Cln8mnd involves: B6.KB2 * C3H/HeJ J:56219 View
neuronal ceroid lipofuscinosis 10 Ctsdm1J/Ctsdm1J C3HeB/FeJ-Ctsdm1J/GrsrJ J:229377 View
neuronal ceroid lipofuscinosis 10 Ctsdtm1Cptr/Ctsdtm1Cptr either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd) J:138648 View
neuronal ceroid lipofuscinosis 10 Ctsdtm1.1Thre/Ctsdtm1.1Thre
Edil3Tg(Sox2-cre)1Amc/Edil3+
involves: C57BL/6 * C57BL/6N * CBA * SJL J:227618 View
neuronal ceroid lipofuscinosis 10 Ctsdtm1.1Thre/Ctsdtm1.1Thre
Tg(Nes-cre)1Kln/0
involves: C57BL/6 * C57BL/6N * SJL J:227618 View
neutral lipid storage disease Abhd5tm1.1Rze/Abhd5tm1.1Rze involves: 129P2/OlaHsd * C57BL/6 J:160725 View
Sandhoff disease Hexbtm1Grv/Hexbtm1Grv either: (involves: 129P2/Ola * C57BL/6J) or (involves: 129S1/Sv * 129X1/SvJ * C57L/6J) J:30899 View
Sandhoff disease Fcer1gtm1Rav/Fcer1gtm1Rav
Hexbtm1Rlp/Hexbtm1Rlp
involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6 J:87617 View
Sandhoff disease Ccl3tm1Unc/Ccl3tm1Unc
Hexbtm1Rlp/Hexbtm1Rlp
involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6 J:90687 View
Sandhoff disease Ccl3tm1Unc/Ccl3+
Hexbtm1Rlp/Hexbtm1Rlp
involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6 J:90687 View
Sandhoff disease Hexbtm1Rlp/Hexbtm1Rlp involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6 J:87617 View
Sandhoff disease Hexbtm1Rlp/Hexbtm1Rlp involves: 129S4/SvJae * C57BL/6 J:29268, J:190450 View
Sandhoff disease Hexbtm1Rlp/Hexbtm1Rlp
Tg(Hexb-tTA2S,tetO-Hexb)#Tjsa/0
involves: 129S4/SvJae * C57BL/6 * CBA J:190450 View
Sandhoff disease Hexbtm1Rlp/Hexbtm1Rlp
Tg(SYN1-tTA2S,tetO-Hexb)#Tjsa/0
involves: 129S4/SvJae * C57BL/6 * CBA J:190450 View
sialuria Slc17a5tm1Lex/Slc17a5tm1Lex involves: 129S5/SvEvBrd * C57BL/6 J:158444 View
Sly syndrome Gusbmps/Gusbmps B6.C-H2-Kbm1/ByBir-Gusbmps/J J:9705 View
Sly syndrome Gusbmps/Gusbmps B6.Cg-Gusbmps/BrkJ J:21256 View
Sly syndrome Gusbmps-2J/Gusbmps-2J C3H/HeOuJ-Gusbmps-2J/BrkJ J:50358, J:72372 View
Sly syndrome Gusbmps-3J/Gusbmps-3J C57BL/6J-Gusbmps-3J/J J:137667 View
Sly syndrome Gusbtm4Sly/Gusbtm4Sly involves: 129X1/SvJ * C57BL/6 J:83169 View
Sly syndrome Gusbtm1Sly/Gusbtm1Sly involves: 129X1/SvJ * C57BL/6J J:81792 View
Sly syndrome Gusbtm2Sly/Gusbtm2Sly involves: 129X1/SvJ * C57BL/6J J:81792 View
Sly syndrome Gusbtm3Sly/Gusbtm3Sly involves: 129X1/SvJ * C57BL/6J J:81792 View
Tay-Sachs disease Hexatm1Grv/Hexatm1Grv involves: 129P2/Ola * C57BL/6J J:30899 View
Tay-Sachs disease Hexatm1Cota/Hexatm1Cota involves: 129S2/SvPas * C57BL/6 J:30435 View
Tay-Sachs disease Hexatm1Rlp/Hexatm1Rlp involves: 129S4/SvJae * C57BL/6 J:21008 View
Tay-Sachs disease AB variant Gm2atm1Rlp/Gm2atm1Rlp involves: 129S4/SvJae * C57BL/6 J:41950 View
      fatty liver disease Lepob/Lepob B6.Cg-Lepob/JRj J:220381 View
fatty liver disease Lrp6tm1Arma/Lrp6tm1Arma C57BL/6-Lrp6tm1Arma J:225450 View
fatty liver disease Tg(Mup3-Plau)350-2Eps/? C57BL/6-Tg(Mup3-Plau)350-2Eps J:233146 View
fatty liver disease Ptentm2Mak/Ptentm2Mak
Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J * DBA J:90905 View
fatty liver disease Adktm1Bois/Adktm1Bois involves: 129P3/JEmsJ * C57BL/6 J:81518 View
fatty liver disease Lgals3tm1Ftl/Lgals3tm1Ftl involves: 129S2/SvPas * CD-1 J:116073, J:221030 View
fatty liver disease Ptentm1Hwu/Ptentm1Hwu
Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
involves: 129S4/SvJae * C57BL/6 * DBA J:216841 View
fatty liver disease Mc4rtm1Lowl/Mc4rtm1Lowl involves: 129S4/SvJae * C57BL/6J J:177386 View
fatty liver disease Sirt1tm1.2Cxd/Sirt1tm1.2Cxd
Tg(Alb1-cre)1Dlr/?
involves: 129S6/SvEvTac * FVB/N J:179193 View
fatty liver disease Ldlrtm1Her/Ldlrtm1Her involves: 129S7/SvEvBrd * C57BL/6 J:175559 View
fatty liver disease Ikbkgtm1.1Mpa/Ikbkgtm1.1Mpa
Tg(Alb1-cre)7Gsc/0
involves: C57BL/6 * FVB/N J:118336 View
Gaucher's disease Gbatm2Ggb/Gbatm2Ggb
Psaptm1Suz/Psaptm1Suz
involves: 129P2/OlaHsd * 129S5/SvEvBrd J:174780 View
Gaucher's disease Gbatm1Rlp/Gbatm1Rlp involves: 129S4/SvJae * C57BL/6 J:76409 View
Gaucher's disease Gbatm3Ggb/Gbatm3Ggb involves: 129S5/SvEvBrd J:86334 View
Gaucher's disease Gbatm1Ggb/Gbatm1Ggb involves: 129S5/SvEvBrd * C57BL/6 J:86334 View
Gaucher's disease Gbatm2Ggb/Gbatm2Ggb involves: 129S5/SvEvBrd * C57BL/6 J:86334 View
Gaucher's disease Gbatm4Ggb/Gbatm4Ggb involves: 129S5/SvEvBrd * C57BL/6 J:86334 View
Gaucher's disease Gbatm2Ggb/Gbatm1Nsb involves: 129S/SvEv * 129S5/SvEvBrd * C57BL/6 J:86334 View
Gaucher's disease Gbatm3Ggb/Gbatm1Nsb involves: 129S/SvEv * 129S5/SvEvBrd * C57BL/6 J:86334 View
Gaucher's disease Gbatm4Ggb/Gbatm1Nsb involves: 129S/SvEv * 129S5/SvEvBrd * C57BL/6 J:86334 View
Krabbe disease Psaptm2Suz/Psaptm2Suz involves: 129S/SvEv * C57BL/6J J:78223 View
lysosomal storage disease Slc17a5tm1Lex/Slc17a5tm1Lex involves: 129S5/SvEvBrd * C57BL/6J J:103485 View
mucopolysaccharidosis Arsgtm1Tdi/Arsgtm1Tdi involves: 129/Sv * C57BL/6 J:185592 View
neuronal ceroid lipofuscinosis Ppt2tm1Hof/Ppt2tm1Hof involves: 129S6/SvEvTac * C57BL/6J J:72931 View
neuronal ceroid lipofuscinosis 3 Clcn3tm1Suc/Clcn3tm1Suc involves: 129P2/OlaHsd * C57BL/6 J:96311 View
neuronal ceroid lipofuscinosis 3 Clcn6tm1Tjj/Clcn6tm1Tjj involves: 129S1/Sv * 129X1/SvJ J:113752 View
neuronal ceroid lipofuscinosis 3 Ppt1tm1Hof/Ppt1tm1Hof involves: 129S6/SvEvTac * C57BL/6J J:72931 View
Niemann-Pick disease Npc1tm1.1Dso/Npc1tm1.1Dso B6.129-Npc1tm1.1Dso J:221855 View
Niemann-Pick disease Npc1m1N/Npc1m1N B6.C-Npc1m1N J:157113 View
Niemann-Pick disease Npc1m1N/Npc1tm1.2Apl B6.Cg-Npc1m1N/Npc1tm1.2Apl J:157113 View
Niemann-Pick disease Npc1m1N/Npc1tm1.1Apl
Tg(CAG-cre/Esr1*)5Amc/0
B6J.Cg-Npc1m1N/Npc1tm1.1Apl Tg(CAG-cre/Esr1*)5Amc J:176888 View
Niemann-Pick disease Npc1m1N/Npc1m1N BALB/c-Npc1m1N J:172769 View
Niemann-Pick disease Npc1m1N/Npc1m1N BALB/cNctr-Npc1m1N/J J:182268, J:209834 View
Niemann-Pick disease Npc1nmf164/Npc1nmf164 C57BL/6J-Npc1nmf164/J J:179744 View
Niemann-Pick disease Npc1spm/Npc1spm C57BLKS/J-Npc1spm/J J:6833 View
Niemann-Pick disease Apptm1Dbo/Apptm1Dbo
Npc1m1N/Npc1m1N
C.Cg-Apptm1Dbo Npc1m1N J:172769 View
Niemann-Pick disease Abcb1atm1Bor/Abcb1atm1Bor
Npc1m1N/Npc1m1N
involves: 129/Ola * BALB/c J:76395 View
Niemann-Pick disease Smpd1tm1Wst/Smpd1tm1Wst involves: 129P2/OlaHsd * C57BL/6 J:26748 View
Niemann-Pick disease Npc2tm1Plob/Npc2tm1Plob involves: 129S1/Sv * BALB/c J:204311 View
Niemann-Pick disease Npc1m1N/Npc1m1N involves: 129S1/Sv * BALB/c * C57BL/6 J:89617 View
Niemann-Pick disease Npc1m1N/Npc1m1N
Npc2tm1Plob/Npc2tm1Plob
involves: 129S1/Sv * BALB/c * C57BL/6 J:89617 View
Niemann-Pick disease Npc2tm1Plob/Npc2tm1Plob involves: 129S1/Sv * BALB/c * C57BL/6 J:89617 View
Niemann-Pick disease Smpd1tm1Esc/Smpd1tm1Esc involves: 129S1/Sv * C57BL/6J J:26732, J:35076, J:44401, J:70489, J:78875, J:81982 View
Niemann-Pick disease Npc1m1N/Npc1m1N
Nr1h2tm1Djm/Nr1h2tm1Djm
involves: 129S6/SvEvTac * BALB/c J:130969 View
Niemann-Pick disease Npc1tm1Mbjg/Npc1tm1Mbjg involves: 129S6/SvEvTac * C57BL/6J J:176587 View
Niemann-Pick disease Npc1m1N/Npc1m1N involves: BALB/c J:18511, J:76733, J:81305, J:130969, J:204311 View
Niemann-Pick disease Npc1m1N/Npc1m1N involves: BALB/c * C3H/HeJ * C57BL/6J J:188345 View
Niemann-Pick disease Npc1m1N/Npc1m1N
Tg(PRNP-APPSweInd)8Dwst/0
involves: BALB/c * C3H/HeJ * C57BL/6J J:188345 View
Niemann-Pick disease fm/fm involves: CBA/H J:5696 View
nonalcoholic fatty liver disease Pnpla3tm2.1Hobb/Pnpla3tm2.1Hobb involves: 129 * C57BL/6J J:264475 View
nonalcoholic fatty liver disease Sidt2tm1.1Hzha/Sidt2tm1.1Hzha involves: 129S6/SvEvTac * C57BL/6J J:236042 View
Transgenes and
Other Mutations
     fatty liver disease Tg(Alb-PDGFC)#Jcam/0 involves: C57BL/6 J:96979 View
Additional
Complex
Models
     Sly syndrome Hexatm1Rlp/Hexatm1Rlp
Hexbtm1Rlp/Hexbtm1Rlp
involves: 129S4/SvJae * C57BL/6 J:36305 View