Phenotypes Associated with This Genotype

Genotype
MGI:3616169

• Allelic Composition: Gan^tm1Yany/Gan^tm1Yany
• Genetic Background: Not Specified

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

mortality/aging

premature death ( J:108239 )

• only a small number of mutants die before 12 months of age

growth/size/body

weight loss ( J:108239 )

• some mutants show progressive weight loss by 12 months of age and beyond

cellular

abnormal cell morphology ( J:103926 )

• on average microtubule density is decreased by about 51% both in and outside of the nervous system at 20 to 26 weeks of age

behavior/neurological

weakness ( J:108239 )

• shortly after initial indications of neurological abnormalities, homozygous mutants in many cases can be distinguished by overall weakness compared to littermates

abnormal posture ( J:108239 )

• shortly after initial indications of neurological abnormalities, homozygous mutants can be distinguished from littermates by bizarre limb positioning

abnormal locomotor activation ( J:108239 )

• reduction in the amount of spontaneous movement is initial sign of abnormalities

abnormal gait ( J:108239 )

• at 6-10 months of age, gait disturbances are detected in mutants

seizures ( J:108239 )

nervous system

seizures ( J:108239 )

abnormal axon morphology ( J:108239 )

• mutants show loss of myelinated and unmyelinated axons ranging in severity from 18-27% in the peripheral nerves by 9-12 months of age

• usually axons are enlarged, with pronounced axonal swelling

• at later stages, axons of mutants are marked by vesicular accumulation

abnormal myelin sheath morphology ( J:108239 )

• in mutants axons show degeneration with thin myeling sheath in both the peripheral and central nervous systems

abnormal axonal transport ( J:108239 )

• in axons from mutant mice, retrograde axonal transport is impaired

muscle

muscular atrophy ( J:108239 )

• at 12 months of age and beyond, some mutants display muscle wasting

muscle spasm ( J:108239 )

• signs of spasticity are observed in some mutants shortly after initial indications of neurological abnormalities

progressive muscle weakness ( J:108239 )

• weakness starts from the hind limbs and progresses to the fore limbs

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
giant axonal neuropathy 1		DOID:0090068	OMIM:256850	J:103926 , J:108239