Phenotypes Associated with This Genotype

Genotype
MGI:3849460

• Allelic Composition: Npc1^m1N/Npc1^m1N; Tg(CAG-RAB9A)500Repa/0
• Genetic Background: involves: BALB/c * C57BL/6 * CBA

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

premature death ( J:144240 )

• male mice have a 22% increase in lifespan compared to transgene-negative Npc1 homozygotes which die around 95 days of age

growth/size/body

decreased susceptibility to weight loss ( J:144240 )

• animals lose weight more slowly than transgene positive Npc1 homozygotes; at all time points after the 4 weeks, weight differences are significantly different

• transgene-positive animals show a trend to increased weight retention; retardation in weight loss is more pronounced for males relative to females

homeostasis/metabolism

decreased ganglioside level ( J:144240 )

• 80-day-old mice have reduced levels of GM₂ and GM₃ gangliosides (by 45 and 32%) in the cerebral cortex compared to transgene-negative Npc1 homozygotes