Mouse Genome Informatics
hm
    Cln6nclf/Cln6nclf
involves: C57BL/6J * C57BL/10J * C3HeB/FeJLe
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging

behavior/neurological
• paresis progresses to paralysis typically by 9 months of age
• paralysis is spastic in nature
• develop rear limb paresis by 8 months of age
• paresis is spastic in nature
• terminal seizures have been seen

nervous system
• terminal seizures have been seen
• by 6 months of age increasing numbers of hypertrophic astrocytes are seen in the cerebral cortex, thalamus and brain stem indicative of reactive gliosis
• many profiles of degenerating myelin sheaths and axons are seen in the white matter of the spinal cord
• lesions in the spinal cord are consistent with Wallerian degeneration
• however, no necrotic or apoptotic nuclei are detected in the central nervous system
• many profiles of degenerating myelin sheaths and axons are seen in the white matter of the spinal cord
• lesions in the spinal cord are consistent with Wallerian degeneration
• at 11 days of age, accumulation of luxol fast blue staining material is seen in inclusions in neurons in all parts of the brain and spinal cord
• amount of inclusion material increases with age

vision/eye
• begins around 4 months of age
• by 5 - 6 months of age, the outer nuclear layer is reduced to 5-6 cell layers compared to 11 in controls

Mouse Models of Human Disease
OMIM IDRef(s)
Ceroid Lipofuscinosis, Neuronal, 6; CLN6 601780 J:73923