Phenotypes Associated with This Genotype

Genotype
MGI:5293760

• Allelic Composition: Npc1^tm1Mbjg/Npc1^tm1Mbjg
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

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

Loss of Purkinje cells in the cerebellum and presence of foam cells in the liver and spleen of Npc1^tm1Mbjg/Npc1^tm1Mbjg mice

mortality/aging

premature death ( J:176587 )

• average lifespan is 84 days

behavior/neurological

tremors ( J:176587 )

• beginning around 50 days of age

ataxia ( J:176587 )

• beginning around 50 days of age

growth/size/body

decreased body weight ( J:176587 )

• weigh 41% less than wild-type littermates at 85 days of age

weight loss ( J:176587 )

• beginning around 45 days of age

cellular

foam cell reticulosis ( J:176587 )

• numerous large foam cells are seen in the liver, spleen, lungs, and kidneys at 9 weeks of age

homeostasis/metabolism

abnormal lipid level ( J:176587 )

• levels of gangliosides GM2 and GM3 are elevated in the liver and brain

increased cholesterol level ( J:176587 )

• accumulate excess cholesterol in multiple tissues at 9 weeks of age

• increased 2.5 fold in the kidney at 9 weeks of age

increased liver cholesterol level ( J:176587 )

• increased 7.4 fold at 9 weeks of age

nervous system

decreased Purkinje cell number ( J:176587 )

• loss of Purkinje cells in the cerebellum at 9 weeks of age

liver/biliary system

increased liver cholesterol level ( J:176587 )

• increased 7.4 fold at 9 weeks of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Niemann-Pick disease		DOID:14504		J:176587