Phenotype Image Detail

Image

Caption

Pathological alterations in the cerebellum. A, The Gnptab^nym/Gnptab^nym (nym/nym) brain is about 30% smaller than the wild-type (+/+) brain. Scale bar, 3 mm. B, Parasagittal brain sections were immunostained for calbindin. Analysis of Purkinje cell (PC) degeneration in the whole cerebellum in 3-, 7-, and 11-month-old mutant mice showed progressive PC loss. Lobe IV/V is shown as a representative lobe of the cerebellum. The majority of Purkinje cells in lobe IV/V are still present at 3 months, but only 75% remain at 7 months, and only 40-50% remain at 11 months. Scale bar, 100 um. C, Higher magnification images of the 3-month-old mutant brain revealed that axonal spheroids/torpedoes precede Purkinje cell loss. Swelling of Purkinje cell axons (arrow) and neuronal torpedoes (*) in the white matter are observed already at 3 months and increase in severity with age. Scale bars, 50 um. D, Luxol fast blue staining of the cerebellar sections indicates decreased myelination and degeneration of the subcortical white matter in the mutant mouse. Higher magnification images are shown below in panels 1-4 (1 and 3, +/+; and 4, nym/nym). Scale bars, 200 um (top) and 100 um (bottom). E, Strong immunoreactivity for glial fibrillary acidic protein (GFAP) in the cerebellum of the mutant mouse brain. Scale bar, 50 um.

Copyright

This image is from Paton L, J Biol Chem 2014 Sep 26;289(39):26709-21 and is displayed with the permission of the American Society for Biochemistry and Molecular Biology who owns the Copyright. Full text from JBC. J:218156

Associated Alleles

Symbol	Name
Gnptab^nym	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits; Nymphe

Associated Genotypes

Allelic Composition	Genetic Background
Gnptab^nym/Gnptab^nym	involves: BALB/cAnNHsd * C3H/HeNHsd