Analysis Tools|
Allele Symbol Allele Name Allele ID |
Npc1tm1.2Apl targeted mutation 1.2, Andrew P Lieberman MGI:4431253 |
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| Summary |
3 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• similar to in Npc1m1N homozygotes
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• similar to in Npc1m1N homozygotes
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• similar to in Npc1m1N homozygotes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice die around 49 days of age
• no mice survive longer than 9 weeks
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• at 7 weeks
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• on a rotarod
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• at weaning
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• at 7 weeks of age
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• mice exhibit an increase in unestrified cholesterol in the cerebellum compared with wild-type mice
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• mice exhibit proliferation of foamy cells in the liver unlike wild-type mice
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Niemann-Pick disease | DOID:14504 | J:157113 | ||
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• mice do not exhibit premature death
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| N |
• Purkinje cells exhibit normal electrophysiology
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• as early as 5.5 to 7 weeks, mice exhibit loss of Purkinje cells unlike wild-type mice
• by 10 weeks, mice exhibit a 15% loss of Purkinje cells in lobule X compared with wild-type mice
• however, no further loss of Purkinje cells in lobule X occur between 10 and 20 weeks
• Purkinje cell loss in lobules II-V is greater than 75% at 10 weeks and approaches 100% by 15 weeks
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• by 10 weeks, mice exhibit difficulties traversing a balance beam unlike wild-type mice
• by 15 weeks, mice exhibit impaired performance on a rotarod compared with wild-type mice
• motor defects are age-dependent
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• mice exhibit age-dependent unesterified cholesterol accumulation in Purkinje cells unlike in wild-type mice
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| N |
• mice do not exhibit weight loss
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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 11/05/2024 MGI 6.24 |
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