| Human Disease |
Niemann-Pick Disease, Type C1; NPC1 OMIM ID: 257220 |
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| Synonyms | Niemann-Pick Disease with Cholesterol Esterification Block; Niemann-Pick Disease without Sphingomyelinase Deficiency; Niemann-Pick Disease, Chronic Neuronopathic Form; Niemann-Pick Disease, Subacute Juvenile Form; Niemann-Pick Disease, Type C; NPC | ||||||||||||||||||||||||||||
| View all models | View ALL (16) mouse models for this human disease. | ||||||||||||||||||||||||||||
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Genes and mouse models |
Mutations in human and/or mouse homologs are associated with this disease
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| Allelic Composition | Genetic Background | Reference | Phenotypes |
| Npc1m1N/Npc1m1N |
B6.C-Npc1m1N | J:157113 | View |
| Npc1tm1Mbjg/Npc1tm1Mbjg |
involves: 129S6/SvEvTac * C57BL/6J | J:176587 | View |
| Npc1nmf164/Npc1nmf164 |
C57BL/6J-Npc1nmf164/J | J:179744 | View |
| Npc1m1N/Npc1m1N |
BALB/c-Npc1m1N | J:172769 | View |
| Npc1spm/Npc1spm |
C57BLKS/J-Npc1spm/J | J:6833 | View |
| Npc1m1N/Npc1m1N |
BALB/cNctr-Npc1m1N/J | J:182268 | View |
| Npc1m1N/Npc1m1N Nr1h2tm1Djm/Nr1h2tm1Djm |
involves: 129S6/SvEvTac * BALB/c | J:130969 | View |
| Npc1m1N/Npc1m1N |
involves: 129S1/Sv * BALB/c * C57BL/6 | J:89617 | View |
| Npc1m1N/Npc1m1N Npc2tm1Plob/Npc2tm1Plob |
involves: 129S1/Sv * BALB/c * C57BL/6 | J:89617 | View |
| Npc1m1N/Npc1m1N |
involves: BALB/c | J:18511, J:76733, J:81305, J:130969 | View |
| Npc1m1N/Npc1m1N |
involves: BALB/c * C3H/HeJ * C57BL/6J | J:188345 | View |
| Npc1m1N/Npc1tm1.2Apl |
B6.Cg-Npc1m1N/Npc1tm1.2Apl | J:157113 | View |
| Apptm1Dbo/Apptm1Dbo Npc1m1N/Npc1m1N |
C.Cg-Apptm1Dbo Npc1m1N | J:172769 | View |
| Abcb1atm1Bor/Abcb1atm1Bor Npc1m1N/Npc1m1N |
involves: 129/Ola * BALB/c | J:76395 | View |
| Npc1m1N/Npc1m1N Tg(PRNP-APPSweInd)8Dwst/0 |
involves: BALB/c * C3H/HeJ * C57BL/6J | J:188345 | View |
| Allelic Composition | Genetic Background | Reference | Phenotypes |
| Npc2tm1Plob/Npc2tm1Plob |
involves: 129S1/Sv * BALB/c * C57BL/6 | J:89617 | View |
| Npc1m1N/Npc1m1N Npc2tm1Plob/Npc2tm1Plob |
involves: 129S1/Sv * BALB/c * C57BL/6 | J:89617 | View |
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc |
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last database update 06/05/2013 MGI 5.13 |
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