Mouse Genome Informatics
cx
    Apptm1Dbo/Apptm1Dbo
Npc1m1N/Npc1m1N

C.Cg-Apptm1Dbo 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 50 days of age

growth/size
• mutants exhibit severe weight loss, with weight at 3 weeks of age lower than seen in single homozygous App mice, but then increases so that by 12 weeks of age, loss of body weight is similar to single Npc1 homozygotes

nervous system
• lower number of surviving Purkinje cells in cerebellar lobes VIII and X
• mutants exhibit a greater increase in astrocytosis and microglia activation than in single Npc1 homozygotes
• mutants exhibit demyelination in the white matter

behavior/neurological
• mutants exhibit an exacerbated motor coordination deficit than seen in single Npc1 homozygotes

homeostasis/metabolism
• mutants exhibit a greater vesicular accumulation of and wider distribution of cholesterol in the cerebellum, the motor cortex, the hippocampus and dentate gyrus than single Npc1 homozygotes

Mouse Models of Human Disease
OMIM IDRef(s)
Alzheimer Disease; AD 104300 J:172769
Niemann-Pick Disease, Type C1; NPC1 257220 J:172769