Phenotype Image Detail

Image

Caption

Cerebellar Purkinje cells are lost in affected Pi4k2a^{Gt(AK0094)Wtsi}/Pi4k2a^{Gt(AK0094)Wtsi} (KO) mice; (A and B) cresyl violet-stained sections of littermate wild-type (wt) and mutant mice. In (B) only a single Purkinje cell remains (arrow); areas of Purkinje cell loss are interspersed with normal areas. (C and D) GFAP immunostaining (green) and propidium iodide counterstain (red) showing the gliosis accompanying Purkinje cell loss (D); autofluorescence was suppressed with CuSO4. (E and F) Autofluorescent material correlates with higher amounts of lipofuscin-like deposits (arrow) observed by TEM. (H-K) Axon degeneration in mutant mice: (H and I) semithin spinal cord sections reveal extensive axonal degeneration in comparable regions of the lumbar cord of wild-type (H) and mutant (I) mice. Marked axonal loss and/or reduced caliber in mutant mice is accompanied by numerous swollen axons. (J and K) TEM of ultrathin spinal cord sections showing swollen axons, whereas myelin sheaths appear normal; (K): Swelling adjacent to a node of Ranvier. m, mitochondria; asterisk, membranous inclusions. Scale bars: A-D, 100 um; E and F, 50 um; G, 5 um; H, 25 um; J, 2.5 um and K, 1 um.

Copyright

This image is from Simons JP, Proc Natl Acad Sci U S A 2009 Jul 14;106(28):11535-9. Copyright 2009 National Academy of Sciences, U.S.A. J:150794

Associated Alleles

Symbol	Name
Pi4k2a^Gt(AK0094)Wtsi	phosphatidylinositol 4-kinase type 2 alpha; gene trap AK0094, Wellcome Trust Sanger Institute

Associated Genotypes

Allelic Composition	Genetic Background
Pi4k2a^Gt(AK0094)Wtsi/Pi4k2a^Gt(AK0094)Wtsi	involves: 129P2/OlaHsd * BALB/c