Phenotypes Associated with This Genotype

Genotype
MGI:2670340

• Allelic Composition: Atp8a2^agil/Atp8a2^agil
• Genetic Background: C3H/HeJ-Atp8a2^agil/GrsrJ

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

Dystrophic axons in Atp8a2^agil/Atp8a2^agil mice

mortality/aging

postnatal lethality, complete penetrance ( J:84746 )

• homozygotes die by 3 weeks of age

behavior/neurological

ataxia ( J:84746 )

• mice exhibit an unsteady, shaky, wobbly gait

growth/size/body

postnatal growth retardation ( J:84746 )

• by 15 days of age, homozygous mutant mice are smaller than their littermates

nervous system

abnormal spinal cord white matter morphology ( J:84746 )

• three of ten mutants had a few scatttered dystrophic axons and degenerating myelin sheaths (myelin figures) in spinal cord white matter; these changes are consistant with early degeneration of spinal cord white matter

axonal dystrophy ( J:84746 )

• three of ten mutants had a few scatttered dystrophic axons in spinal cord white matter

abnormal myelination ( J:84746 )

• pathological screen of ten mutants and two controls, all at about 3 weeks of age, had slightly less deeply staining myelin in spinal cord stained with luxal fast blue