All Phenotypes Gabra1<+> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Gabra1^tm1.1Geh/Gabra1⁺	B6.129(Cg)-Gabra1^tm1.1Geh	MGI:5433047
ht2	Gabra1^tm1.1Mjga/Gabra1⁺	B6J.Cg-Gabra1^tm1.1Mjga	MGI:5774687
ht3	Gabra1^tm1.1Geh/Gabra1⁺	D2.129(Cg)-Gabra1^tm1.1Geh	MGI:5433031
ht4	Gabra1^tm2.1Geh/Gabra1⁺	involves: 129X1/SvJ * C57BL/6J	MGI:3618214
ht5	Gabra1^tm2Geh/Gabra1⁺	involves: 129X1/SvJ * C57BL/6J	MGI:3618215

♀	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 )

• 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 )

• 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)
generalized epilepsy		DOID:1827	OMIM:600669	J:186685 , J:227437

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gabra1^tm1.1Mjga mutation (0 available); any Gabra1 mutation (46 available)

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

behavior/neurological

seizures ( J:227437 )

• 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 )

• 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)
generalized epilepsy		DOID:1827	OMIM:600669	J:227437

Allelic Composition	Gabra1^tm1.1Geh/Gabra1⁺
Genetic Background	D2.129(Cg)-Gabra1^tm1.1Geh

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gabra1^tm1.1Geh mutation (0 available); any Gabra1 mutation (46 available)

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

behavior/neurological

absence seizures ( J:186685 )

• spike wave discharges associate with behavioral arrest and treatment with ethosuximide decreases the incidence of spike wave discharges

abnormal spike wave discharge ( J:186685 )

• Background Sensitivity: heterozygotes on a DBA/2J congenic background display an average of 19 spike wave discharge events per hour with no significant difference found between sexes

nervous system

absence seizures ( J:186685 )

• spike wave discharges associate with behavioral arrest and treatment with ethosuximide decreases the incidence of spike wave discharges

abnormal spike wave discharge ( J:186685 )

• Background Sensitivity: heterozygotes on a DBA/2J congenic background display an average of 19 spike wave discharge events per hour with no significant difference found between sexes

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

Allelic Composition	Gabra1^tm2.1Geh/Gabra1⁺
Genetic Background	involves: 129X1/SvJ * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gabra1^tm2.1Geh mutation (0 available); any Gabra1 mutation (46 available)

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

mortality/aging

premature death ( J:105293 )

• 10% of mice surviving to weaning die by 12 weeks of age

postnatal lethality, incomplete penetrance ( J:105293 )

• 40% die between birth and weaning

growth/size/body

decreased body weight ( J:105293 )

• body weigts are 25% less than wild-type controls, but number may be biased due to many of the smallest mice dying prior to the analysis

behavior/neurological

tremors ( J:105293 )

• mice have a detectable postural intention tremor that worsens when mice are suspended by the tail

impaired coordination ( J:105293 )

• male mice display impaired coordination in the accelerating rotarod test compared to controls

hunched posture ( J:105293 )

• surviving mice often exhibit hunched posture

abnormal locomotor behavior ( J:105293 )

• mice show reduced locomotor activity compared to wild-type when monitored for activity in their home cage for a 4-hour period, but show greater activity than wild-type over the first 20 minutes of a 60 minute period in a novel test environment

abnormal locomotor activation ( J:105293 )

• surviving mice are hypoactive

hyperresponsive ( J:105293 )

• mice have an exaggerated response to human contact, including vigorous jumping and escape behavior

abnormal maternal nurturing ( J:105293 )

• only 1 of 90 pups survived more than 2 days due to impaired nurturing behavior

nervous system

abnormal inhibitory postsynaptic currents ( J:105293 )

• miniature inhibitory postsynaptic currents in hippocampal neurons decay more slowly than in wild-type

• in thalamic neurons, in response to isofluorane, the decay time of miniature inhibitory postsynaptic currents is prolonged by 38% compared to 237% in wild-type

Allelic Composition	Gabra1^tm2Geh/Gabra1⁺
Genetic Background	involves: 129X1/SvJ * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gabra1^tm2Geh mutation (0 available); any Gabra1 mutation (46 available)

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

behavior/neurological

impaired coordination ( J:105293 )

• male mice display impaired coordination in the accelerating rotarod test compared to wild-type controls

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