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Phenotypes Associated with This Genotype
Genotype
MGI:3846848
Allelic
Composition
Npc1spm/Npc1spm
Genetic
Background
C57BLKS/J-Npc1spm/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Npc1spm mutation (1 available); any Npc1 mutation (40 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• lifespan is 12 to 14 weeks of age

behavior/neurological
• observed around 7 weeks of age and becomes more severe until death at 12 to 14 weeks of age
• observed around 7 weeks of age and becomes more severe until death at 12 to 14 weeks of age

growth/size/body
• begins around 7 weeks of age and continues until death at 12 to 14 weeks of age

homeostasis/metabolism
• sphingomyelin is markedly elevated in liver and spleen but not in the brain
• sphingomyelinase activity is reduced by 70% in liver, 50% in spleen and 20%-30% in brain
• markedly elevated levels are seen in the liver and spleen but not in the brain
• altered levels are detected in the liver of mice 4 weeks of age and older

immune system
• large areas of the liver and spleen are replaced by foam cells
• Background Sensitivity: on this background this is seen at 4 weeks of age

liver/biliary system
• Background Sensitivity: on this background this is seen as early as 4 weeks of age

nervous system
• cells are severely depleted in the brain

hematopoietic system
• large areas of the liver and spleen are replaced by foam cells
• Background Sensitivity: on this background this is seen at 4 weeks of age

cellular
• large areas of the liver and spleen are replaced by foam cells
• altered levels are present in liver from 4 weeks of age on
• sphingomyelin is markedly elevated in liver and spleen but not in the brain
• sphingomyelinase activity is reduced by 70% in liver, 50% in spleen and 20%-30% in brain

Mouse Models of Human Disease
OMIM ID Ref(s)
Niemann-Pick Disease, Type C1; NPC1 257220 J:6833


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
11/29/2016
MGI 6.06
The Jackson Laboratory