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Phenotypes Associated with This Genotype
Genotype
MGI:4436745
Allelic
Composition
Npc1m1N/Npc1m1N
Genetic
Background
B6.C-Npc1m1N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Npc1m1N mutation (2 available); any Npc1 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• at 7 weeks (J:157113)
• at 7 weeks (J:157113)

hematopoietic system

homeostasis/metabolism
• Background Sensitivity: increased lipid accumulation in P49 liver tissue as compared to BALB/c background (J:221855)
• Background Sensitivity: lipids include: ceramides, monohexosyceramides, sphingomyelins, sphingoid bases, gangiosides, free cholesterol, 24(S)-hydroxycholesterol, 4beta-hydroxy cholesterol and cholesterol ester (J:221855)
• Background Sensitivity: increased lipid accumulation in P49 liver tissue as compared to BALB/c background (J:221855)
• Background Sensitivity: lipids include: ceramides, monohexosyceramides, sphingomyelins, sphingoid bases, gangiosides, free cholesterol, 24(S)-hydroxycholesterol, 4beta-hydroxy cholesterol and cholesterol ester (J:221855)
• mice exhibit an increase in unestrified cholesterol in the cerebellum compared with wild-type mice (J:157113)
• mice exhibit an increase in unestrified cholesterol in the cerebellum compared with wild-type mice (J:157113)
• Background Sensitivity: increased accumulation in P49 liver tissue as compared to BALB/c background (J:221855)
• Background Sensitivity: increased accumulation in P49 liver tissue as compared to BALB/c background (J:221855)
• Background Sensitivity: increased accumulation in P49 liver tissue as compared to BALB/c background (J:221855)
• Background Sensitivity: increased accumulation in P49 liver tissue as compared to BALB/c background (J:221855)
• Background Sensitivity: increased accumulation in P49 liver and brain tissue as compared to BALB/c background (J:221855)
• Background Sensitivity: increased accumulation in P49 liver and brain tissue as compared to BALB/c background (J:221855)

cellular
• mice exhibit proliferation of foamy cells in the liver unlike wild-type mice (J:157113)
• mice exhibit proliferation of foamy cells in the liver unlike wild-type mice (J:157113)

immune system

liver/biliary system
• Background Sensitivity: increased accumulation in P49 liver tissue as compared to BALB/c background (J:221855)
• Background Sensitivity: increased accumulation in P49 liver tissue as compared to BALB/c background (J:221855)

Mouse Models of Human Disease
OMIM ID Ref(s)
Niemann-Pick Disease, Type C1; NPC1 257220 J:157113


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
02/02/2016
MGI 6.02
The Jackson Laboratory