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All mouse models of sphingolipidosis with phenotypic similarity to the human disease
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| Disease Term | Allelic Composition | Genetic Background | Reference | Phenotypes | ||||
  | combined saposin deficiency | \Psaptm1Suz/\Psaptm1Suz | involves: 129P2/OlaHsd | J:33477 | View | |||
| Fabry disease |
\Glatm1Kul/\Glatm1Kul \Tg(CAG-A4GALT)#Sais/0 |
involves: 129S4/SvJae * C57BL/6 * C57BL/6JJms | J:206001 | View | ||||
| Fabry disease | \Glatm1Kul/Y | involves: 129S4/SvJae * C57BL/6 | J:39394, J:187258 | View | ||||
| Fabry disease |
\Glatm1Kul/Y \Tg(CAG-A4GALT)#Sais/0 |
involves: 129S4/SvJae * C57BL/6 * C57BL/6JJms | J:206001 | View | ||||
| Gaucher's disease | \Gba1tm1Ggb/\Gba1tm1Ggb | involves: 129S5/SvEvBrd * C57BL/6 | J:86334 | View | ||||
| Gaucher's disease | \Gba1tm1Rlp/\Gba1tm1Rlp | involves: 129S4/SvJae * C57BL/6 | J:76409 | View | ||||
| Gaucher's disease | \Gba1tm2Ggb/\Gba1tm1Nsb | involves: 129S/SvEv * 129S5/SvEvBrd * C57BL/6 | J:86334 | View | ||||
| Gaucher's disease | \Gba1tm2Ggb/\Gba1tm2Ggb | involves: 129S5/SvEvBrd * C57BL/6 | J:86334 | View | ||||
| Gaucher's disease |
\Gba1tm2Ggb/\Gba1tm2Ggb \Psaptm1Suz/\Psaptm1Suz |
involves: 129P2/OlaHsd * 129S5/SvEvBrd | J:174780 | View | ||||
| Gaucher's disease | \Gba1tm3Ggb/\Gba1tm1Nsb | involves: 129S/SvEv * 129S5/SvEvBrd * C57BL/6 | J:86334 | View | ||||
| Gaucher's disease | \Gba1tm3Ggb/\Gba1tm3Ggb | involves: 129S5/SvEvBrd | J:86334 | View | ||||
| Gaucher's disease | \Gba1tm4Ggb/\Gba1tm1Nsb | involves: 129S/SvEv * 129S5/SvEvBrd * C57BL/6 | J:86334 | View | ||||
| Gaucher's disease | \Gba1tm4Ggb/\Gba1tm4Ggb | involves: 129S5/SvEvBrd * C57BL/6 | J:86334 | View | ||||
| Gaucher's disease type I | \Gba1tm1.1Karl/\Gba1tm1.1Karl | involves: 129S1/Sv * 129X1/SvJ | J:113751 | View | ||||
| Gaucher's disease type I |
\Gba1tm1.1Pmis/\Gba1tm1.1Pmis \Tg(Mx1-cre)1Cgn/0 |
involves: C57BL/6 * CBA | J:167081 | View | ||||
| Gaucher's disease type I |
\Gba1tm1.1Pmis/\Gba1tm1.2Pmis \Tg(Mx1-cre)1Cgn/0 |
involves: C57BL/6 * CBA | J:167081 | View | ||||
| Gaucher's disease type I | \Gba1tm1.1Smoc/\Gba1tm1.1Smoc | involves: C57BL/6J | J:325557 | View | ||||
| Gaucher's disease type I |
\Gba1tm1Clk/\Gba1tm1.1Clk \Tg(Tek-cre)12Flv/0 |
involves: 129S1/Sv * 129X1/SvJ * C3H * C57BL/6J | J:117763 | View | ||||
| Gaucher's disease type I |
\Gba1tm1Karl/\Gba1tm1.1Karl \Tg(Mx1-cre)1Cgn/0 |
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA | J:113751 | View | ||||
| Gaucher's disease type II | \Gba1tm1Nsb/\Gba1tm1Nsb | involves: 129S/SvEv * C57BL/6 | J:1100 | View | ||||
| Gaucher's disease type II |
\Gba1tm2Karl/\Gba1tm2Karl \Tg(KRT14-cre)8Brn/? |
involves: 129S1/Sv * 129X1/SvJ * FVB/N | J:127108 | View | ||||
| GM1 gangliosidosis | \Glb1tm1Adz/\Glb1tm1Adz | involves: 129/Sv * C57BL/6 | J:98543 | View | ||||
| GM1 gangliosidosis | \Glb1tm1Adz/\Glb1tm1Adz | involves: 129P2/OlaHsd | J:38620 | View | ||||
| GM1 gangliosidosis | \Glb1tm1Jmat/\Glb1tm1Jmat | involves: C57BL/6 * CBA * ICR | J:40522, J:43534 | View | ||||
| GM2 gangliosidosis, AB variant | \Gm2atm1Rlp/\Gm2atm1Rlp | involves: 129S4/SvJae * C57BL/6 | J:41950 | View | ||||
| Krabbe disease | \Galcm4Btlr/\Galcm4Btlr | C57BL/6J-Galcm4Btlr | J:307652 | View | ||||
| Krabbe disease | \Galctm1Wngr/\Galctm1Wngr | involves: 129S2/SvPas | J:78691 | View | ||||
| Krabbe disease | \Galctwi/\Galctwi | B6.CE-Galctwi/J | J:6390, J:6423, J:165361, J:170081 | View | ||||
| metachromatic leukodystrophy | \Arsatm1Gie/\Arsatm1Gie | involves: 129P2/OlaHsd * C57BL/6J | J:37978, J:52310 | View | ||||
| mucosulfatidosis | \Sumf1Gt(RST760)Byg/\Sumf1Gt(RST760)Byg | involves: 129P2/OlaHsd * C57BL/6 | J:120146 | 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 | J:204311 | 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 | \Smpd1tm1Wst/\Smpd1tm1Wst | involves: 129P2/OlaHsd * C57BL/6 | J:26748 | View | ||||
| Niemann-Pick disease type C1 | \Npc1tm1Tacf/\Npc1tm1Tacf | B6(Cg)-Npc1tm1Tacf | J:266795 | View | ||||
| Niemann-Pick disease type C1 | \Npc1tm1Tacf/\Npc1tm2Tacf | B6(Cg)-Npc1tm1Tacf Npc1tm2Tacf | J:266795 | View | ||||
| Sandhoff disease |
\Ccl3tm1Unc/\Ccl3+ \Hexbtm1Rlp/\Hexbtm1Rlp |
involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6 | J:90687 | View | ||||
| Sandhoff disease |
\Ccl3tm1Unc/\Ccl3tm1Unc \Hexbtm1Rlp/\Hexbtm1Rlp |
involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6 | J:90687 | View | ||||
| Sandhoff disease |
\Fcer1gtm1Rav/\Fcer1gtm1Rav \Hexbtm1Rlp/\Hexbtm1Rlp |
involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6 | J:87617 | View | ||||
| Sandhoff disease | \Hexblysd/\Hexblysd | B6.Cg-Hexblysd/J | J:301674 | View | ||||
| Sandhoff disease | \Hexbtm1Grv/\Hexbtm1Grv | either: (involves: 129P2/Ola * C57BL/6J) or (involves: 129S1/Sv * 129X1/SvJ * C57L/6J) | J:30899 | 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 | ||||
| Tay-Sachs disease | \Hexatm1Cota/\Hexatm1Cota | involves: 129S2/SvPas * C57BL/6 | J:30435 | View | ||||
| Tay-Sachs disease | \Hexatm1Grv/\Hexatm1Grv | involves: 129P2/Ola * C57BL/6J | J:30899 | View | ||||
| Tay-Sachs disease | \Hexatm1Rlp/\Hexatm1Rlp | involves: 129S4/SvJae * C57BL/6 | J:21008 | View | ||||
| | Krabbe disease | \Psaptm2Suz/\Psaptm2Suz | involves: 129S/SvEv * C57BL/6J | J:78223 | View | |||
| metachromatic leukodystrophy | \Psaptm2Ggb/\Psaptm2Ggb | involves: 129S/SvEv * C57BL/6J | J:137650 | View | ||||
| Niemann-Pick disease |
\Abcb1atm1Bor/\Abcb1atm1Bor \Npc1m1N/\Npc1m1N |
involves: 129/Ola * BALB/c | J:76395 | View | ||||
| Niemann-Pick disease |
\Apptm1Dbo/\Apptm1Dbo \Npc1m1N/\Npc1m1N |
C.Cg-Apptm1Dbo Npc1m1N | J:172769 | View | ||||
| Niemann-Pick disease | \fm/\fm | involves: CBA/H | J:5696 | View | ||||
| Niemann-Pick disease | \Npc1m1N/\Npc1m1N | B6.C-Npc1m1N | J:157113 | 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 | \Npc1m1N/\Npc1m1N | involves: 129S1/Sv * BALB/c * C57BL/6 | J:89617 | 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 \Nr1h2tm1Djm/\Nr1h2tm1Djm |
involves: 129S6/SvEvTac * BALB/c | J:130969 | View | ||||
| Niemann-Pick disease |
\Npc1m1N/\Npc1m1N \Tg(PRNP-APPSweInd)8Dwst/0 |
involves: BALB/c * C3H/HeJ * C57BL/6J | J:188345 | 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/\Npc1tm1.2Apl | B6.Cg-Npc1m1N/Npc1tm1.2Apl | J:157113 | 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 | \Npc1tm1.1Dso/\Npc1tm1.1Dso | B6.129-Npc1tm1.1Dso | J:221855 | View | ||||
| Niemann-Pick disease | \Npc1tm1Mbjg/\Npc1tm1Mbjg | involves: 129S6/SvEvTac * C57BL/6J | J:176587 | View | ||||
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No similarity to the expected human disease phenotype was found.
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| Disease Term | Allelic Composition | Genetic Background | Reference | Phenotypes | ||||
| NOT Models | Gaucher's disease | \Psaptm1Suz/\Psaptm2.1Juma | involves: 129 * 129P2/OlaHsd * C57BL/6J * FVB/N | J:283977 | View | |||
| Gaucher's disease | \Psaptm2.1Juma/\Psaptm2.1Juma | involves: 129 * C57BL/6J * FVB/N | J:283977 | View | ||||