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Phenotypes Associated with This Genotype
Genotype
MGI:5305067
Allelic
Composition
Apptm1Dbo/Apptm1Dbo
Npc1m1N/Npc1m1N
Genetic
Background
C.Cg-Apptm1Dbo Npc1m1N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Apptm1Dbo mutation (1 available); any App mutation (22 available)
Npc1m1N mutation (2 available); any Npc1 mutation (40 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mutants start to die at 50 days of age

growth/size/body
• 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
• 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
• 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


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
07/19/2016
MGI 6.04
The Jackson Laboratory