Phenotype Image Detail

Image

Caption

Calbindin-stained sections of cerebellum from wild-type, Npc1^m1N/Npc1^m1N, double homozygous mice for Npc1^m1N and Npc2^tm1Plob and Npc2^tm1Plob/Npc2^tm1Plob 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
Npc1^m1N	NPC intracellular cholesterol transporter 1; Niemann Pick type C1 NIH
Npc2^tm1Plob	NPC intracellular cholesterol transporter 2; targeted mutation 1, Peter Lobel and David Sleat

Associated Genotypes

Allelic Composition	Genetic Background
Npc1^m1N/Npc1^m1N	involves: 129S1/Sv * BALB/c * C57BL/6
Npc2^tm1Plob/Npc2^tm1Plob	involves: 129S1/Sv * BALB/c * C57BL/6
Npc1^m1N/Npc1^m1N Npc2^tm1Plob/Npc2^tm1Plob	involves: 129S1/Sv * BALB/c * C57BL/6