Phenotypes associated with this allele

• Allele Symbol: Slc12a6^gaxp
• Allele Name: giant axonopathy
• Allele ID: MGI:2675598
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Slc12a6^gaxp/Slc12a6^gaxp	C3H/HeSnJ-Slc12a6^gaxp/GrsrJ	MGI:3581126

Genotype
MGI:3581126

hm1

• Allelic Composition: Slc12a6^gaxp/Slc12a6^gaxp
• Genetic Background: C3H/HeSnJ-Slc12a6^gaxp/GrsrJ

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

Pale eosinophilic vacuoles in Slc12a6^gaxp/Slc12a6^gaxp deep cerebellar nucleus

nervous system

abnormal brain morphology ( J:82451 )

• vacuolated structures observed in white matter appear to be swollen axons

abnormal axon morphology ( J:82451 )

• the number of axons affected appear to increase with age of the mouse

• swollen axons seen in mutant mice are a unique axonal dystrophy

axonal dystrophy ( J:82451 )

• H&E staining shows vacuoles of 20-50 microns often bounded by myelin and containing flocculent pale eosinophilic material are found in deep cerebellar nuclei, pons, lateral vestibular nuclei, dorsal root ganglia, and trigeminal ganglia

abnormal myelination ( J:82451 )

• irregular

behavior/neurological

ataxia ( J:136097 )

• mutant mice lift their hind feet higher than normal, with a slight side to side wobble in the gait

weakness ( J:136097 )

• mutant mice lack strength in the hind legs to resist backward traction

paraparesis ( J:136097 )