Phenotypes Associated with This Genotype

Genotype
MGI:6441509

• Allelic Composition: Scamp5^tm1Smoc/Scamp5^tm1Smoc
• Genetic Background: involves: C57BL/6J

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

nervous system

seizures ( J:288324 )

• some neonatal mice of about 2 weeks of age occasionally show spontaneous epileptic seizures in the cage without any stimulation

audiogenic seizures ( J:288324 )

• neonatal mice at 2 weeks of age are very sensitive to sound stimulation and all mice exhibit typical autogenic epilepsy

abnormal brain wave pattern ( J:288324 )

• EEGs show typical epileptic seizures after sound stimulus

increased excitatory postsynaptic current amplitude ( J:288324 )

• the amplitude of evoked EPSCs mediated by AMPA-type glutamate receptors is increased in hippocampal neurons

• however, the amplitude of evoked IPSCs is unchanged

abnormal miniature excitatory postsynaptic currents ( J:288324 )

• the frequency of miniature excitatory postsynaptic currents (mEPSCs) is increased in hippocampal neurons

• however, the frequency of miniature inhibitory postsynaptic currents (mIPSCs) is unaltered and the amplitudes of mEPSCs and mIPSCs are unchanged

mortality/aging

premature death ( J:288324 )

• some mice die suddenly after sound-stimulated seizures

behavior/neurological

seizures ( J:288324 )

• some neonatal mice of about 2 weeks of age occasionally show spontaneous epileptic seizures in the cage without any stimulation

audiogenic seizures ( J:288324 )

• neonatal mice at 2 weeks of age are very sensitive to sound stimulation and all mice exhibit typical autogenic epilepsy

muscle

abnormal muscle electrophysiology ( J:288324 )

• electromyography (EMGs) show shrinkage of the muscles during epileptic attacks

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
epilepsy		DOID:1826		J:288324