Phenotypes Associated with This Genotype

Genotype
MGI:2181781

• Allelic Composition: Ank3^tm1Bnt/Ank3^tm1Bnt
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

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

mortality/aging

premature death ( J:51377 )

• usually between 4-6 months of age; variable and incomplete penetrance

behavior/neurological

tremors ( J:51377 )

• increasing severity with age

ataxia ( J:51377 )

• uncoordinated movements and frequent falls; variable age of onset, but seen as early as P16

abnormal gait ( J:51377 )

decreased locomotor activity ( J:51377 )

convulsive seizures ( J:51377 )

• occasionally preceding death

nervous system

convulsive seizures ( J:51377 )

• occasionally preceding death

Purkinje cell degeneration ( J:51377 )

decreased Purkinje cell number ( J:51377 )

• reduced by 60% in number by 5 months of age; progressive reduction with age

thin cerebellar molecular layer ( J:51377 )

• reduced in thickness, probably due to loss of Purkinje cells

small cerebellum ( J:51377 )

• seen in mice greater than 5 months of age

impaired ability to fire action potentials ( J:51377 )

• higher threshold required to initiate action potentials; occasional failure to fire action potential on stimulus and slower rate of maximal firing on long current stimulus