Phenotypes Associated with This Genotype

Genotype
MGI:3812458

• Allelic Composition: Gan^tm1Jpj/Gan^tm1Jpj
• Genetic Background: involves: C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

muscle

muscular atrophy ( J:140136 )

• 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

abnormal nervous system morphology ( J:140136 )

• 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

abnormal motor neuron innervation pattern ( J:140136 )

• there is a 10% increase in denervation of the hind limb muscle fibers as compared to controls at 6- and 12- months of age

abnormal ventral spinal root morphology ( J:140136 )

• 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	J:140136