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Phenotypes Associated with This Genotype
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Clcn6tm1Tjj mutation (0 available); any Clcn6 mutation (67 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Characterization of storage material and axonal swelling in Clcn6tm1Tjj/Clcn6tm1Tjj mice

• starting at 4 weeks and becoming strong at >3 months in the cortex, autofluorescence of neurons in virtually all brain regions is detected, resulting from lipofuscin accumulation in initial axon segments of neurons; accumulation increases with age

• mutants spend less time spent in center of elevated plus maze and number of open-arm entries is reduced in mutants
• mice spend more time in center of test arena, indicating decrease in anxiety
• mutants spend less time in vertical exploratory behavior, as measured by decreased vertical rearings
• mutants show doubled tail-flick latencies compared to wild-type

nervous system
• neurons in the brain show autofluorescence resulting from accumulation of lipofuscin
• soma of cortical neurons show reduced cathepsin D which is concentrated in proximal axons instead; other lysosomal markers are mislocalized in mutants vs wild-type
• cortical neurons frequently show enlargements of the proximal axons, due to lipopigment deposits; deposits consist of lipid droplets associated with amorphous or granular material
• DRG axons have abundant storage material including curvilinear storage bodies and fingerprints
• granular osmophilic deposits (GRODs) in proximal axons contain mitochondrial ATP synthase and lysosomal proteins

• mutants show doubled tail-flick latencies compared to wild-type

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
neuronal ceroid lipofuscinosis 3 DOID:0110731 OMIM:204200

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.08
The Jackson Laboratory