Mouse Genome Informatics
involves: C57BL/6
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
• histology reveals that muscle fibers of the hind limb are about 20% thinner at 6- and 12- months of age compared to controls

nervous system
• starting at 3 months of age, expression of intermediate filament proteins (neurofilament protein -H, -M, -L, alpha-internexin, and vimentin) are much higher than controls in the brain and spinal cord of these mice
• some increases in protein levels are also noted around motor neurons in the spinal cord
• high expression of these proteins lead to formation of inclusion bodies containing neurofilament protein-H and alpha-internexin
• inclusion bodies mainly occur in the cerebral cortex but also in the thalamus
• these inclusion bodies are found in the cytoplasm of affected neurons
• there is a 10% increase in denervation of the hind limb muscle fibers as compared to controls at 6- and 12- months of age
• the number of motor axons in 6 month old mice is reduced by 27% in the L5 ventral root compared to littermate controls

Mouse Models of Human Disease
NOT Giant Axonal Neuropathy 1; GAN1 256850 J:140136