Phenotypes Associated with This Genotype

Genotype
MGI:5433047

• Allelic Composition: Gabra1^tm1.1Geh/Gabra1⁺
• Genetic Background: B6.129(Cg)-Gabra1^tm1.1Geh

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

muscle

myoclonus ( J:227437 )

• 15% of polyspike-and-wave discharges are associated with visible myoclonic jerks

behavior/neurological

seizures ( J:227437 )

• mice at P120 exhibit a discharge that starts with two or more consecutive spikes and/or waves and occurs with an irregular periodicity and a high frequency, features resembling polyspike-and-wave discharges

• spontaneous polyspike-and-wave discharges are more frequent at P120 than P35

increased susceptibility to pharmacologically induced seizures ( J:227437 )

• seizures in P120 mutants occur with a higher probability at shorter latencies after PTZ injection than in wild-type mice

myoclonus ( J:227437 )

• 15% of polyspike-and-wave discharges are associated with visible myoclonic jerks

tonic-clonic seizures ( J:227437 )

• one spontaneous generalized tonic-clonic seizure was recorded in one P120 mouse

absence seizures ( J:186685 , J:227437 )

• spike wave discharges associate with behavioral arrest and treatment with ethosuximide decreases the incidence of spike wave discharges (J:186685)

• mice exhibit absence-like seizures at P35 and P120 (J:227437)

abnormal spike wave discharge ( J:186685 , J:227437 )

• Background Sensitivity: heterozygotes on a C57BL/6J congenic background display spike wave discharge events with males having an average of 11 per hour and females having an average of 23 per hour (J:186685)

• mice exhibit abundant spike-wave discharges (SWDs) at P35 and P120 (J:227437)

• each SWD consists of very rhythmic, 6-8 Hz spikes, positive transients, and waves (J:227437)

• SWDs are associated with behavioral arrest (J:227437)

nervous system

seizures ( J:227437 )

• mice at P120 exhibit a discharge that starts with two or more consecutive spikes and/or waves and occurs with an irregular periodicity and a high frequency, features resembling polyspike-and-wave discharges

• spontaneous polyspike-and-wave discharges are more frequent at P120 than P35

increased susceptibility to pharmacologically induced seizures ( J:227437 )

• seizures in P120 mutants occur with a higher probability at shorter latencies after PTZ injection than in wild-type mice

myoclonus ( J:227437 )

• 15% of polyspike-and-wave discharges are associated with visible myoclonic jerks

tonic-clonic seizures ( J:227437 )

• one spontaneous generalized tonic-clonic seizure was recorded in one P120 mouse

absence seizures ( J:186685 , J:227437 )

• spike wave discharges associate with behavioral arrest and treatment with ethosuximide decreases the incidence of spike wave discharges (J:186685)

• mice exhibit absence-like seizures at P35 and P120 (J:227437)

abnormal spike wave discharge ( J:186685 , J:227437 )

• Background Sensitivity: heterozygotes on a C57BL/6J congenic background display spike wave discharge events with males having an average of 11 per hour and females having an average of 23 per hour (J:186685)

• mice exhibit abundant spike-wave discharges (SWDs) at P35 and P120 (J:227437)

• each SWD consists of very rhythmic, 6-8 Hz spikes, positive transients, and waves (J:227437)

• SWDs are associated with behavioral arrest (J:227437)

abnormal miniature inhibitory postsynaptic currents ( J:227437 )

• reduction in mIPSC amplitudes and increase in the time course of current decay in P35 and P120 cortices

• even though mIPSCs in cortices are of reduced amplitude, the increase in current decay results in the lack of a significant difference in charge transfer

decreased miniature inhibitory postsynaptic current amplitude ( J:227437 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
idiopathic generalized epilepsy		DOID:1827	OMIM:600669	J:186685 , J:227437