Phenotypes associated with this allele

• Allele Symbol: Arhgef9^em1Frk
• Allele Name: endonuclease-mediated mutation 1, Wayne Frankel
• Allele ID: MGI:8174718
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
ot1	Arhgef9^em1Frk/Y	C57BL/6NJ-Arhgef9^em1Frk/FrkJ	MGI:8174730

Genotype
MGI:8174730

ot1

• Allelic Composition: Arhgef9^em1Frk/Y
• Genetic Background: C57BL/6NJ-Arhgef9^em1Frk/FrkJ

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

nervous system

seizures ( J:364541 )

♂ • video electroencephalography showed an array of seizure types in addition to spike-wave discharges

myoclonus ( J:364541 )

♂

tonic seizures ( J:364541 )

♂

tonic-clonic seizures ( J:364541 )

♂

absence seizures ( J:364541 )

♂

abnormal hippocampus neuron morphology ( J:364541 )

♂ • Hippocampal neurons have a significant decrease in GABA(A) receptor alpha2 and SLC32A1 in the axon initial segment

abnormal hippocampal pyramidal neuron dendrite morphology ( J:364541 )

♂ • With the mutated SH3 domain, this protein forms aggregates with gephyrin in the axon initial segment and sometimes the soma in the hippocampal pyramidal layer at some point after 10 days of age resulting in loss of functional inhibitory synapses, but these aggregates are found in excitatory but not inhibitory neurons

abnormal postsynaptic density morphology ( J:364541 )

♂ • in the hippocampal pyramidal layer

abnormal excitatory synapse morphology ( J:364541 )

♂

abnormal hippocampus physiology ( J:364541 )

♂ • pyramidal neurons have an impairment in the balance of excitation and inhibition

impaired ability to fire action potentials ( J:364541 )

♂ • CA3 pyramidal neurons have an elevated action potential threshold and elevated rheobase current

abnormal interictal brain wave pattern ( J:364541 )

♂

reduced sensorimotor gating ( J:364541 )

♂ • increased response to acoustic stimuli

increased miniature excitatory postsynaptic current amplitude ( J:364541 )

♂ • CA3 hippocampal pyramidal layer neurons display decreased mIPSC amplitude but increased mEPSC amplitude

decreased miniature inhibitory postsynaptic current amplitude ( J:364541 )

♂ • CA3 hippocampal pyramidal layer neurons display decreased mIPSC amplitude but increased mEPSC amplitude

behavior/neurological

hyperekplexia ( J:364541 )

♂ • increased response in the acoustic startle response test

seizures ( J:364541 )

♂ • video electroencephalography showed an array of seizure types in addition to spike-wave discharges

myoclonus ( J:364541 )

♂

tonic seizures ( J:364541 )

♂

tonic-clonic seizures ( J:364541 )

♂

absence seizures ( J:364541 )

♂

muscle

myoclonus ( J:364541 )

♂

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
developmental and epileptic encephalopathy 8		DOID:0080215	OMIM:300607	J:364541