Phenotypes Associated with This Genotype

Genotype
MGI:4436745

• Allelic Composition: Npc1^m1N/Npc1^m1N
• Genetic Background: B6.C-Npc1^m1N

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

nervous system

microgliosis ( J:157113 )

Purkinje cell degeneration ( J:157113 )

• at 7 weeks

astrocytosis ( J:157113 )

hematopoietic system

microgliosis ( J:157113 )

homeostasis/metabolism

abnormal lipid homeostasis ( J:221855 )

abnormal lipid level ( J:221855 )

• Background Sensitivity: increased lipid accumulation in P49 liver tissue as compared to BALB/c background

• Background Sensitivity: lipids include: ceramides, monohexosyceramides, sphingomyelins, sphingoid bases, gangiosides, free cholesterol, 24(S)-hydroxycholesterol, 4beta-hydroxy cholesterol and cholesterol ester

increased cholesterol level ( J:157113 )

• mice exhibit an increase in unestrified cholesterol in the cerebellum compared with wild-type mice

increased liver cholesterol level ( J:221855 )

• Background Sensitivity: increased accumulation in P49 liver tissue as compared to BALB/c background

abnormal sphingomyelin level ( J:221855 )

• Background Sensitivity: increased accumulation in P49 liver tissue as compared to BALB/c background

abnormal ceramide level ( J:221855 )

• Background Sensitivity: increased accumulation in P49 liver and brain tissue as compared to BALB/c background

cellular

foam cell reticulosis ( J:157113 )

• mice exhibit proliferation of foamy cells in the liver unlike wild-type mice

immune system

microgliosis ( J:157113 )

liver/biliary system

increased liver cholesterol level ( J:221855 )

• Background Sensitivity: increased accumulation in P49 liver tissue as compared to BALB/c background

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Niemann-Pick disease		DOID:14504		J:157113