Phenotype Image Detail

Image

Caption

A & B: Autofluorescence in the hippocampus of 3-month-old wild-type (A) and Clcn6^tm1Tjj/Clcn6^tm1Tjj (B) littermates. Note the localization in initial axon segments in the homozygote (arrow). C: Golgi staining of a homozygote cortical neuron reveals proximal axonal swelling (a meganeurite; arrow) that was seen in 20% of cortical neurons; age, 6 months. D: Electron microscopy reveals a similar swelling of a hippocampal axon because of material accumulation (arrow). The neuronal plasma membrane is surrounded by a dashed line; n, nucleus. E: Avacuolar, lipofuscin-like lipopigment that was nearly always associated with lipid droplets in a homozygous cortical neuron. F & G: Electron microscopy of DRG axons (ax) from wild-type (F) and homozygote (G) P90 littermates reveals storage material in the homozygote. Scalebars: A-C: 20um; D: 2um; E: 400um; F & G: 1um

Copyright

This image is from Poet M, Proc Natl Acad Sci U S A 2006 Sep 12;103(37):13854-9. Copyright 2006 National Academy of Sciences, U.S.A. J:113752

Associated Alleles

Symbol	Name
Clcn6^tm1Tjj	chloride channel, voltage-sensitive 6; targeted mutation 1, Thomas J Jentsch

Associated Genotypes

Allelic Composition	Genetic Background
Clcn6^tm1Tjj/Clcn6^tm1Tjj	involves: 129S1/Sv * 129X1/SvJ