Phenotypes Associated with This Genotype

Genotype
MGI:4436744

• Allelic Composition: Npc1^m1N/Npc1^tm1.2Apl
• Genetic Background: B6.Cg-Npc1^m1N/Npc1^tm1.2Apl

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

mortality/aging

premature death ( J:157113 )

• mice die around 49 days of age

• no mice survive longer than 9 weeks

nervous system

microgliosis ( J:157113 )

Purkinje cell degeneration ( J:157113 )

• at 7 weeks

astrocytosis ( J:157113 )

behavior/neurological

impaired coordination ( J:157113 )

• on a rotarod

growth/size/body

decreased body size ( J:157113 )

• at weaning

weight loss ( J:157113 )

• at 7 weeks of age

homeostasis/metabolism

increased cholesterol level ( J:157113 )

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

cellular

foam cell reticulosis ( J:157113 )

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

immune system

microgliosis ( J:157113 )

hematopoietic system

microgliosis ( J:157113 )

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