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Phenotypes Associated with This Genotype
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gantm1Yany mutation (0 available); any Gan mutation (12 available)
phenotype observed in females
phenotype observed in males
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
DO ID OMIM ID(s) Ref(s)
giant axonal neuropathy 1 DOID:0090068 OMIM:256850
J:103926 , J:108239

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 6.10
The Jackson Laboratory