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Phenotypes Associated with This Genotype
involves: C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gantm1Jpj mutation (0 available); any Gan mutation (12 available)
phenotype observed in females
phenotype observed in males
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
DO ID OMIM ID(s) Ref(s)
giant axonal neuropathy 1 DOID:0090068 OMIM:256850

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 6.12
The Jackson Laboratory