Phenotypes Associated with This Genotype

Genotype
MGI:4356174

• Allelic Composition: Atp1a3^Myk/Atp1a3⁺
• Genetic Background: involves: 129S1/SvImJ * C57BL/6J * C57BL/6NCr

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

mortality/aging

premature death ( J:151948 )

• maximal tonic hindlimb extension is followed by death

nervous system

nervous system phenotype ( J:151948 )

N • mice exhibit normal synaptic transmission and synaptic plasticity

environmentally induced seizures ( J:151948 )

• seizures can be evoked by vestibular stress

• mice exhibit spike wave discharge after cage shaking

• however, treatment with valproic acid reduces cage-shaking-induced seizures and transfection with the wild-type copy of the gene prevents cage-shaking-induced seizures

convulsive seizures ( J:151948 )

• at 4 weeks of age, mice exhibit spontaneous, recurrent behavioral convulsive seizures unlike wild-type mice

• seizures can be evoked by vestibular stress

• seizures begin with running and leaping, behavioral arrest, and Straub tail, are followed by whole body clonic jerking and falling, are accompanied by salivation, and occasionally progressed to maximal tonic hindlimb extension followed by death

• at 16 weeks, mice exhibit spontaneous seizures

abnormal spike wave discharge ( J:151948 )

• during behavioral seizures, mice exhibit spike-waves characteristic of epileptic discharge

• vestibular stress induces intermittent sharp waves that increase in amplitude until generalized bilateral synchronous tonic-clonic seizure activity is observed

• superfusion with magnesium ion free artificial cerebrospinal fluid induces repeated synchronized ictal bursts in the CA3 and entorhinal cortex of more than 50% of slices unlike in similarly treated wild-type slices

• after theta burst stimulation, mice exhibit enhanced excitation-spike coupling compared to wild-type mice

• mice exhibit numerous electrographic seizures unlike wild-type mice

• mice exhibit spike wave discharge after cage shaking

abnormal temporal lobe morphology ( J:151948 )

• mice exhibit medial temporal sclerosis

abnormal hippocampus pyramidal cell morphology ( J:151948 )

• mice exhibit aberrant membranous whorls in the hippocampal pyramidal neurons unlike in wild-type mice

growth/size/body

decreased body size ( J:151948 )

• at 9 weeks

decreased body weight ( J:151948 )

• at 9 weeks

behavior/neurological

environmentally induced seizures ( J:151948 )

• seizures can be evoked by vestibular stress

• mice exhibit spike wave discharge after cage shaking

• however, treatment with valproic acid reduces cage-shaking-induced seizures and transfection with the wild-type copy of the gene prevents cage-shaking-induced seizures

convulsive seizures ( J:151948 )

• at 4 weeks of age, mice exhibit spontaneous, recurrent behavioral convulsive seizures unlike wild-type mice

• seizures can be evoked by vestibular stress

• seizures begin with running and leaping, behavioral arrest, and Straub tail, are followed by whole body clonic jerking and falling, are accompanied by salivation, and occasionally progressed to maximal tonic hindlimb extension followed by death

• at 16 weeks, mice exhibit spontaneous seizures

abnormal spike wave discharge ( J:151948 )

• during behavioral seizures, mice exhibit spike-waves characteristic of epileptic discharge

• vestibular stress induces intermittent sharp waves that increase in amplitude until generalized bilateral synchronous tonic-clonic seizure activity is observed

• superfusion with magnesium ion free artificial cerebrospinal fluid induces repeated synchronized ictal bursts in the CA3 and entorhinal cortex of more than 50% of slices unlike in similarly treated wild-type slices

• after theta burst stimulation, mice exhibit enhanced excitation-spike coupling compared to wild-type mice

• mice exhibit numerous electrographic seizures unlike wild-type mice

• mice exhibit spike wave discharge after cage shaking