Mouse Genome Informatics
hm
    Npc1m1N/Npc1m1N
BALB/c-Npc1m1N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• mutants start to die at 73 days of age

growth/size
• mutants exhibit a progressive weight loss from 4 weeks of age

nervous system
• lower number of surviving Purkinje cells in cerebellar lobes VIII and X
• increase in astrocytosis and microglia activation
• mutants exhibit demyelination in the white matter

behavior/neurological
• progressive decline in motor coordination after 4 weeks of age

homeostasis/metabolism
• mutants exhibit vesicular accumulation of cholesterol in the cerebellum

Mouse Models of Human Disease
OMIM IDRef(s)
Niemann-Pick Disease, Type C1; NPC1 257220 J:172769