Phenotypes Associated with This Genotype

Genotype
MGI:5774687

• Allelic Composition: Gabra1^tm1.1Mjga/Gabra1⁺
• Genetic Background: B6J.Cg-Gabra1^tm1.1Mjga

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

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 and myoclonic seizures are very infrequent compared with the SWDs

• 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 )

• 10% of polyspike-and-wave discharges are associated with visible myoclonic jerks

• spontaneous polyspike-and-wave discharges and myoclonic seizures are very infrequent compared with the SWDs

tonic-clonic seizures ( J:227437 )

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

absence seizures ( J:227437 )

• mice exhibit absence-like seizures at P35 and P120

abnormal spike wave discharge ( J:227437 )

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

• each SWD consists of very rhythmic, 6-8 Hz spikes, positive transients, and waves

• SWDs are associated with behavioral arrest

muscle

myoclonus ( J:227437 )

• 10% of polyspike-and-wave discharges are associated with visible myoclonic jerks

• spontaneous polyspike-and-wave discharges and myoclonic seizures are very infrequent compared with the SWDs

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 and myoclonic seizures are very infrequent compared with the SWDs

• 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 )

• 10% of polyspike-and-wave discharges are associated with visible myoclonic jerks

• spontaneous polyspike-and-wave discharges and myoclonic seizures are very infrequent compared with the SWDs

tonic-clonic seizures ( J:227437 )

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

absence seizures ( J:227437 )

• mice exhibit absence-like seizures at P35 and P120

abnormal spike wave discharge ( J:227437 )

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

• each SWD consists of very rhythmic, 6-8 Hz spikes, positive transients, and waves

• SWDs are associated with behavioral arrest

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

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:227437