Mouse Genome Informatics
Not Specified
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
• only a small number of mutants die before 12 months of age

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

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

• shortly after initial indications of neurological abnormalities, homozygous mutants in many cases can be distinguished by overall weakness compared to littermates
• shortly after initial indications of neurological abnormalities, homozygous mutants can be distinguished from littermates by bizarre limb positioning
• reduction in the amount of spontaneous movement is initial sign of abnormalities
• at 6-10 months of age, gait disturbances are detected in mutants

nervous system
• 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
• in mutants axons show degeneration with thin myeling sheath in both the peripheral and central nervous systems
• in axons from mutant mice, retrograde axonal transport is impaired

• at 12 months of age and beyond, some mutants display muscle wasting
• signs of spasticity are observed in some mutants shortly after initial indications of neurological abnormalities
• weakness starts from the hind limbs and progresses to the fore limbs

Mouse Models of Human Disease
Giant Axonal Neuropathy 1, Autosomal Recessive; GAN1 256850 J:103926 , J:108239