Phenotypes Associated with This Genotype

Genotype
MGI:4867200

• Allelic Composition: Kcna2^Pgu/Kcna2^Pgu
• Genetic Background: involves: C3H/HeJ * C57BL/6J

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

Postnatal growth retardation in Kcna2^Pgu/Kcna2⁺ and Kcna2^Pgu/Kcna2^Pgu mice

mortality/aging

premature death ( J:166795 )

• 50% of mice die between P15 and P35

postnatal lethality ( J:166795 )

• 50% of mice die between P15 and P35

behavior/neurological

tremors ( J:166795 )

• severe on a balance beam

ataxia ( J:166795 )

• on a balance beam

impaired coordination ( J:166795 )

• on a rotarod and balance beam

• however, treatment with acetazolamide improves rotarod performance

decreased grip strength ( J:166795 )

abnormal posture ( J:166795 )

• flattened on a balance beam

abnormal gait ( J:166795 )

• with splayed hind limbs

nervous system

nervous system phenotype ( J:166795 )

N • neuronal migration in the cortex is normal

impaired ability to fire action potentials ( J:166795 )

• the frequency of Purkinje cell action potential firing is reduced compared to in wild-type mice

• however, basket cell firing rate is normal

abnormal single cell response ( J:166795 )

• Purkinje cells spiking frequency is reduced compared to in wild-type mice

• ISI distribution in Purkinje cells is more irregular than in wild-type mice

abnormal inhibitory postsynaptic currents ( J:166795 )

• mice exhibit increased spontaneous GABAergic inhibitory postsynaptic current frequency and amplitude compared with wild-type mice

abnormal miniature inhibitory postsynaptic currents ( J:166795 )

• mice exhibit larger miniature inhibitory postsynaptic currents compared with wild-type mice

growth/size/body

decreased body size ( J:166795 )

• beginning at P7

decreased body weight ( J:166795 )

• beginning at P7

postnatal growth retardation ( J:166795 )

• between P7 and P28