Mouse Genome Informatics
hm1
    Npc1tm1Mbjg/Npc1tm1Mbjg
involves: 129S6/SvEvTac * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype

Loss of Purkinje cells in the cerebellum and presence of foam cells in the liver and spleen of Npc1tm1Mbjg/Npc1tm1Mbjg mice

mortality/aging
• average lifespan is 84 days

behavior/neurological
• beginning around 50 days of age
• beginning around 50 days of age

growth/size
• weigh 41% less than wild-type littermates at 85 days of age
• beginning around 45 days of age

cellular
• numerous large foam cells are seen in the liver, spleen, lungs, and kidneys at 9 weeks of age

homeostasis/metabolism
• levels of gangliosides GM2 and GM3 are elevated in the liver and brain
• accumulate excess cholesterol in multiple tissues at 9 weeks of age
• increased 2.5 fold in the kidney at 9 weeks of age
• increased 7.4 fold at 9 weeks of age

nervous system
• loss of Purkinje cells in the cerebellum at 9 weeks of age

liver/biliary system
• increased 7.4 fold at 9 weeks of age

Mouse Models of Human Disease
OMIM IDRef(s)
Niemann-Pick Disease, Type C1; NPC1 257220 J:176587