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Phenotypes Associated with This Genotype
Genotype
MGI:3044881
Allelic
Composition
Npc2tm1Plob/Npc2tm1Plob
Genetic
Background
involves: 129S1/Sv * BALB/c * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Npc2tm1Plob mutation (0 available); any Npc2 mutation (12 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Neurodegenerative changes affecting cerebullar Purkinje cells of Npc1m1N/Npc1m1N, Npc2tm1Plob/Npc2tm1Plob, and double homozygous mice for Npc1m1N and Npc2tm1Plob

mortality/aging
• all mice on a genetic background involving 129S1/Sv, BALB/c, C57BL/6 had died by ~130 days of age

behavior/neurological
• continuous tremor first detected at ~55 days of age
• following onset of tremors
• following onset of tremors

growth/size/body
• mice grew normally until ~55 days of age when they began to lose weight
• later onset and less progressive than in Npc1m1N homozygotes

homeostasis/metabolism
• cholesterol and other lipid accumulation in the liver at 50 days of age with an ~17 fold increase in plant sterols and marked elevations of sphingomyelin, lyso(bis)phosphatidic acid, gangliosides GM2 and GM3, glucosylceramide, lactosylceramide, and asialo-GM2
• lipid accumulation in the brain at 50 days was largely limited to glycolipids with 11 to 15 fold increases in glucosylceramide, lactosylceramide, and asialo-GM2
• galactosylceramide levels were reduced in the brain, reflecting a general loss of myelin lipids
• no increase in overall cholesterol levels in the brain, putatively due to compensatory losses due to demyelination, neuronal death, and possible imbalance between neuronal cell bodies and distal axons
• about a 6 fold increase in total cholesterol accumulation in the liver at 28 days of age
• about a 10 fold increase in total cholesterol accumulation in the liver at 50 days of age
• on the cellular level in the brain, unesterified cholesterol was stored in neurons within the neocortex, dentate gyrus, hippocampus, and cerebellum

nervous system
• similar progressive degeneration of loss as in Npc1m1 homozygotes, but later onset

liver/biliary system
• about a 6 fold increase in total cholesterol accumulation in the liver at 28 days of age
• about a 10 fold increase in total cholesterol accumulation in the liver at 50 days of age
• no increase in overall cholesterol levels in the brain, putatively due to compensatory losses due to demyelination, neuronal death, and possible imbalance between neuronal cell bodies and distal axons
• on the cellular level in the brain, unesterified cholesterol was stored in neurons within the neocortex, dentate gyrus, hippocampus, and cerebellum

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Niemann-Pick disease DOID:14504 OMIM:257200
OMIM:257220
OMIM:607616
OMIM:607625
J:89617


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
10/17/2017
MGI 6.10
The Jackson Laboratory