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Phenotype Image Detail
Image
Caption Calbindin-stained sections of cerebellum from wild-type, Npc1m1N/Npc1m1N, double homozygous mice for Npc1m1N and Npc2tm1Plob and Npc2tm1Plob/Npc2tm1Plob mice at 7 (A) and 11 (B) weeks of age. C: A calbindin-stained Purkinje cell in an NPC2 hypomorph mouse cerebellum showing neurodegenerative changes (dendritic and axonal swellings, upper and lower arrows, respectively) typical of all three disease models. (D) Parvalbumin-immunoreactive axonal enlargements (spheroids) in the deep white matter of a cerebellar folium (arrows) of an NPC2 hypomorph mouse that are typical for all three models. Nissl counterstain. Mice were in a mixed C57BL6/129SvEv/BALBc background. Scalebars: A: 500um; B: 1100um; D: 80um
Copyright This image is from Sleat DE, Proc Natl Acad Sci U S A 2004 Apr 20;101(16):5886-91. Copyright 2004 National Academy of Sciences, U.S.A. J:89617
Associated
Alleles
Symbol Name
Npc1m1N NPC intracellular cholesterol transporter 1; Niemann Pick type C1 NIH
Npc2tm1Plob NPC intracellular cholesterol transporter 2; targeted mutation 1, Peter Lobel and David Sleat
Associated
Genotypes
Allelic Composition Genetic Background
Npc1m1N/Npc1m1N involves: 129S1/Sv * BALB/c * C57BL/6
Npc2tm1Plob/Npc2tm1Plob involves: 129S1/Sv * BALB/c * C57BL/6
Npc1m1N/Npc1m1N
Npc2tm1Plob/Npc2tm1Plob
involves: 129S1/Sv * BALB/c * C57BL/6

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory