Phenotypes associated with this allele

• Allele Symbol: Senp2^tm1Eyeh
• Allele Name: targeted mutation 1, Edward TH Yeh
• Allele ID: MGI:5706831
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Senp2^tm1Eyeh/Senp2^tm1Eyeh	Not Specified	MGI:5750663

Genotype
MGI:5750663

hm1

• Allelic Composition: Senp2^tm1Eyeh/Senp2^tm1Eyeh
• Genetic Background: Not Specified

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

behavior/neurological

convulsive seizures ( J:217910 )

• by the 6th week of age, mutants develop spontaneous convulsive seizures

• two types of spontaneous seizures are seen: 1) bilaterally generalized electrographic episodes with high voltage, rhythmic spiking, and slower poly-spike/waves, terminating with minimal postictal depression and 2) seizure consisting of wild running fits, involving convulsive tonic and clonic movements of all limbs and trunk, with absent minimal cortical discharge

audiogenic seizures ( J:217910 )

• auditory stimulation (22.5 kHz for 10 s) induces seizures in mutants when they reach 6 weeks of age

• treatment with retigabine prevents auditory induced seizures

cardiovascular system

sinus bradycardia ( J:217910 )

• electrocardiogram recordings indicate episodes of severe prolonged bradycardia

atrioventricular block ( J:217910 )

• mice develop high-degree AV conduction blocks and AV dissociation prior to lethal asystole

• during the interictal periods between seizures, mutants display longer AV block durations and higher frequency of blocks

mortality/aging

premature death ( J:217910 )

• sudden death at 6-8 weeks postpartum with 100% penetrance

nervous system

convulsive seizures ( J:217910 )

• by the 6th week of age, mutants develop spontaneous convulsive seizures

• two types of spontaneous seizures are seen: 1) bilaterally generalized electrographic episodes with high voltage, rhythmic spiking, and slower poly-spike/waves, terminating with minimal postictal depression and 2) seizure consisting of wild running fits, involving convulsive tonic and clonic movements of all limbs and trunk, with absent minimal cortical discharge

audiogenic seizures ( J:217910 )

• auditory stimulation (22.5 kHz for 10 s) induces seizures in mutants when they reach 6 weeks of age

• treatment with retigabine prevents auditory induced seizures

abnormal nervous system electrophysiology ( J:217910 )

• increasing the extracellular potassium concentration induces a higher discharge rate in hippocampal slices, indicating hyperexcitability in hippocampal neurons

• spontaneous firing and the firing rate evoked by current injection in CA3 neurons is higher than in wild-type neurons and a repetitive burst behavior is triggered by mossy fiber stimulation in CA3 neurons that is not in controls

abnormal brain wave pattern ( J:217910 )

• hippocampal electroencephalogram (EEG) recordings show low-amplitude desynchronized cortical EEG activity and frequent bilateral interictal spike discharges

abnormal neuron physiology ( J:217910 )

• neurons exhibit a less negative resting membrane potential

• the amplitude of whole-cell potassium currents of CA3 pyramidal neurons is reduced in hippocampal neurons

• hippocampal neurons show diminished M-currents conducted by Kv7 channels, contributing to the more positive resting membrane potential and hyperexcitability of hippocampal neurons