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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Gabra1tm1.1Geh
targeted mutation 1.1, Gregg E Homanics
MGI:2137421
Summary 9 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Gabra1tm1.1Geh/Gabra1tm1.1Geh B6.129(Cg)-Gabra1tm1.1Geh MGI:5433013
hm2
Gabra1tm1.1Geh/Gabra1tm1.1Geh D2.129(Cg)-Gabra1tm1.1Geh MGI:5433029
hm3
Gabra1tm1.1Geh/Gabra1tm1.1Geh involves: 129S1/Sv * 129X1/SvJ MGI:5504536
hm4
Gabra1tm1.1Geh/Gabra1tm1.1Geh involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:3713527
hm5
Gabra1tm1.1Geh/Gabra1tm1.1Geh involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * FVB/N MGI:3713364
ht6
Gabra1tm1.1Geh/Gabra1+ B6.129(Cg)-Gabra1tm1.1Geh MGI:5433047
ht7
Gabra1tm1.1Geh/Gabra1+ D2.129(Cg)-Gabra1tm1.1Geh MGI:5433031
ht8
Gabra1tm1.1Geh/Gabra1tm1.1Mjga B6J.Cg-Gabra1tm1.1Geh Gabra1tm1.1Mjga MGI:5774715
cx9
Cacna1gtm1Hssh/Cacna1gtm1Hssh
Gabra1tm1.1Geh/Gabra1tm1.1Geh
involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6J MGI:5286582


Genotype
MGI:5433013
hm1
Allelic
Composition
Gabra1tm1.1Geh/Gabra1tm1.1Geh
Genetic
Background
B6.129(Cg)-Gabra1tm1.1Geh
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gabra1tm1.1Geh mutation (0 available); any Gabra1 mutation (24 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• Background Sensitivity: although the genotypes of the mice born from heterozygous intercrosses adheres to predicted Mendelian ratios, after 19 days of age there is increased mortality in homozygotes and, to a lesser extent, heterozygotes on a C57BL/6J congenic background, but only homozygotes show this prewean death on a DBA/2J congenic background and it was not reported by others studying a mixed genetic background

growth/size/body
• after 19 days of age a decrease in body mass is found in homozygotes of either gender and, to a lesser degree, female heterozygotes on a C57BL/6J congenic background, but only in homozygotes on a DBA/2J congenic background




Genotype
MGI:5433029
hm2
Allelic
Composition
Gabra1tm1.1Geh/Gabra1tm1.1Geh
Genetic
Background
D2.129(Cg)-Gabra1tm1.1Geh
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gabra1tm1.1Geh mutation (0 available); any Gabra1 mutation (24 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• Background Sensitivity: although the genotypes of the mice born from heterozygous intercrosses adheres to predicted Mendelian ratios, after 19 days of age there is an increase mortality in homozygotes, which is less severe on the DBA/2J congenic background than on the C57BL/6J congenic background

growth/size/body
• after 19 days of age a decrease in body mass is found in homozygotes but not heterozygotes on a DBA/2J congenic background, and this phenotype is more severe on the C57BL/6J congenic background where it also impacts heterozygotes




Genotype
MGI:5504536
hm3
Allelic
Composition
Gabra1tm1.1Geh/Gabra1tm1.1Geh
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gabra1tm1.1Geh mutation (0 available); any Gabra1 mutation (24 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• larger than normal GABAnergic boutons
• increased number of heterologous contacts of GABAergic terminals in close apposition with spine




Genotype
MGI:3713527
hm4
Allelic
Composition
Gabra1tm1.1Geh/Gabra1tm1.1Geh
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gabra1tm1.1Geh mutation (0 available); any Gabra1 mutation (24 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear
N
• at 6 weeks of age, homozygotes show no signs of cochlear pathology, with normal hearing sensitivity, as determined by ABR/DPOAE assays across various test frequencies, and normal OHC efferent function, as assessed by measuring DPOAE suppression caused by efferent-bundle shocks




Genotype
MGI:3713364
hm5
Allelic
Composition
Gabra1tm1.1Geh/Gabra1tm1.1Geh
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gabra1tm1.1Geh mutation (0 available); any Gabra1 mutation (24 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• at P35, whole-cell patch-clamp recordings of miniature inhibitory postsynaptic currents (mIPSCs) in cerebellar stellate neurons indicate that mutant mIPSC amplitude is significantly reduced and decay is significantly longer relative to that observed in wild type neurons (J:70505)
• at P11, mIPSCs amplitude is already significantly reduced in mutant cerebellar stellate neurons; however, the decay rate is not significantly slower relative to wild-type neurons (J:70505)
• zolpidem is significantly less efficacious in prolonging the duration of mIPSCs in mutant stellate neurons (J:70505)
• at P35, most mutant cerebellar granule neurons do not present low-frequency spontaneous IPSCs (sIPSCs); when recorded, mutant sIPSCs are significantly longer than those observed in wild-type granule neurons (J:70505)
• mice exhibit a 50% to 60% decrease in miniature inhibitory postsynaptic current (mIPSC) in interneurons and pyramidal cells compared to wild-type cells (J:103381)
• mIPSC amplitude in neurons is decreased 20% and decay time is increased 59% in interneurons and 44% in pyramidal cells compared to in wild-type cells (J:103381)
• zolpidem fails to increase mIPSC amplitude or frequency in interneurons or pyramidal cells unlike in similarly treated wild-type mice (J:103381)
• zolpidem fails to increase mean decay time of mIPSCs in interneurons unlike in wild-type cells (J:103381)
• however, zolpidem increases decay time of IPSCs normally in pyramidal cells (J:103381)
• following treatment with zolpidem, peak-scaled non-stationary fluctuations of IPSCs in interneurons do not obtain as high a peak as in wild-type cells (J:103381)

homeostasis/metabolism
• zolpidem fails to increase mIPSC amplitude or frequency in interneurons or pyramidal cells unlike in similarly treated wild-type mice
• zolpidem fails to increase mean decay time of mIPSCs in interneurons unlike in wild-type cells
• however, zolpidem increases decay time of IPSCs normally in pyramidal cells
• following treatment with zolpidem, peak-scaled non-stationary fluctuations of IPSCs in interneurons do not obtain as high a peak as in wild-type cells




Genotype
MGI:5433047
ht6
Allelic
Composition
Gabra1tm1.1Geh/Gabra1+
Genetic
Background
B6.129(Cg)-Gabra1tm1.1Geh
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gabra1tm1.1Geh mutation (0 available); any Gabra1 mutation (24 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
muscle
• 15% of polyspike-and-wave discharges are associated with visible myoclonic jerks

behavior/neurological
• 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
• seizures in P120 mutants occur with a higher probability at shorter latencies after PTZ injection than in wild-type mice
• 15% of polyspike-and-wave discharges are associated with visible myoclonic jerks
• one spontaneous generalized tonic-clonic seizure was recorded in one P120 mouse
• 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)
• 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
• 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
• seizures in P120 mutants occur with a higher probability at shorter latencies after PTZ injection than in wild-type mice
• 15% of polyspike-and-wave discharges are associated with visible myoclonic jerks
• one spontaneous generalized tonic-clonic seizure was recorded in one P120 mouse
• 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)
• 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)
• 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

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




Genotype
MGI:5433031
ht7
Allelic
Composition
Gabra1tm1.1Geh/Gabra1+
Genetic
Background
D2.129(Cg)-Gabra1tm1.1Geh
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gabra1tm1.1Geh mutation (0 available); any Gabra1 mutation (24 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• spike wave discharges associate with behavioral arrest and treatment with ethosuximide decreases the incidence of spike wave discharges
• 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 genders

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

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




Genotype
MGI:5774715
ht8
Allelic
Composition
Gabra1tm1.1Geh/Gabra1tm1.1Mjga
Genetic
Background
B6J.Cg-Gabra1tm1.1Geh Gabra1tm1.1Mjga
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gabra1tm1.1Geh mutation (0 available); any Gabra1 mutation (24 available)
Gabra1tm1.1Mjga mutation (0 available); any Gabra1 mutation (24 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice die at approximately P15-P19




Genotype
MGI:5286582
cx9
Allelic
Composition
Cacna1gtm1Hssh/Cacna1gtm1Hssh
Gabra1tm1.1Geh/Gabra1tm1.1Geh
Genetic
Background
involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cacna1gtm1Hssh mutation (0 available); any Cacna1g mutation (60 available)
Gabra1tm1.1Geh mutation (0 available); any Gabra1 mutation (24 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• on a rotarod, mice fail to exhibit motor learning over several days unlike wild-type mice
• when moving or suspended by tail but not when relaxed
• mice exhibit stronger tremors than Cacna1gtm1Hssh homozygotes
• on a rotarod, mice exhibit reduced performance compared with wild-type mice and fail to exhibit motor learning over several days

nervous system
• mild at 8 months of age

homeostasis/metabolism
• propranolol-treated mice exhibit impaired suppression of tremors compared with similarly treated wild-type mice
• however, mice exhibit normal anti-tremor response to ethanol treatment

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
essential tremor DOID:4990 OMIM:PS190300
J:174980





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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
05/10/2022
MGI 6.19
The Jackson Laboratory