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Human Disease and Mouse Model Detail
Human Disease Niemann-Pick Disease, Type C1; NPC1
OMIM ID: 257220
Human Phenotype Ontology associations
Synonyms Niemann-Pick Disease; 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 (17) mouse models for this human disease.
Genes and
mouse models
Mutations in human and/or mouse homologs are associated with this disease

      *Disease is associated/modeled with this Gene or a homolog. More...
      Human Homologs Mouse Homologs Mouse Models Homology Source
     NPC1* Npc1* View 16 models HomoloGene and HGNC
     NPC2 Npc2* View 2 models HomoloGene and HGNC
References Disease References using Mouse Models (32)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.07
The Jackson Laboratory