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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 (44 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
• approximately 4 times normal levels of cholesterol in the liver at 6 weeks of age (J:102782)

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
• approximately 4 times normal levels of cholesterol in the liver at 6 weeks of age (J:102782)
• Background Sensitivity: on this background this is seen as early as 4 weeks of age

nervous system
• Purkinje cell loss at 45 days of age is significant in both the posterior lobe, and anterior lobe, by 60 days of age there is further loss, especially in the posterior lobe hemispheres, and by 90 days of age most Purkinje cells are gone, but some remain in the flocculus/paraflocculus, lobules IX and X of the nodular zone, and 3 stripes in the anterior zone. (J:81305)
• no loss is seen at 4 weeks of age, but by 6 weeks of age there is significant Purkinje cell loss, and loss is complete by 11 weeks of age (J:102782)
• 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
DO ID OMIM ID(s) Ref(s)
Niemann-Pick disease DOID:14504 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
04/17/2018
MGI 6.11
The Jackson Laboratory