All Phenotypes Gabra1<tm1.1Geh> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gabra1^tm1.1Geh/Gabra1^tm1.1Geh	B6.129(Cg)-Gabra1^tm1.1Geh	MGI:5433013
hm2	Gabra1^tm1.1Geh/Gabra1^tm1.1Geh	D2.129(Cg)-Gabra1^tm1.1Geh	MGI:5433029
hm3	Gabra1^tm1.1Geh/Gabra1^tm1.1Geh	involves: 129S1/Sv * 129X1/SvJ	MGI:5504536
hm4	Gabra1^tm1.1Geh/Gabra1^tm1.1Geh	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3713527
hm5	Gabra1^tm1.1Geh/Gabra1^tm1.1Geh	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * FVB/N	MGI:3713364
ht6	Gabra1^tm1.1Geh/Gabra1⁺	B6.129(Cg)-Gabra1^tm1.1Geh	MGI:5433047
ht7	Gabra1^tm1.1Geh/Gabra1⁺	D2.129(Cg)-Gabra1^tm1.1Geh	MGI:5433031
ht8	Gabra1^tm1.1Geh/Gabra1^tm1.1Mjga	B6J.Cg-Gabra1^tm1.1Geh Gabra1^tm1.1Mjga	MGI:5774715
cx9	Cacna1g^tm1Hssh/Cacna1g^tm1Hssh Gabra1^tm1.1Geh/Gabra1^tm1.1Geh	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6J	MGI:5286582

Allelic Composition	Gabra1^tm1.1Geh/Gabra1^tm1.1Geh
Genetic Background	B6.129(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 (48 available)

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

mortality/aging

preweaning lethality, incomplete penetrance ( J:186685 )

• 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

weight loss ( J:186685 )

• 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

Allelic Composition	Gabra1^tm1.1Geh/Gabra1^tm1.1Geh
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 (48 available)

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

mortality/aging

preweaning lethality, incomplete penetrance ( J:186685 )

• 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

weight loss ( J:186685 )

• 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

Allelic Composition	Gabra1^tm1.1Geh/Gabra1^tm1.1Geh
Genetic Background	involves: 129S1/Sv * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gabra1^tm1.1Geh mutation (0 available); any Gabra1 mutation (48 available)

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

nervous system

abnormal synapse morphology ( J:199326 )

• larger than normal GABAnergic boutons

• increased number of heterologous contacts of GABAergic terminals in close apposition with spine

Allelic Composition	Gabra1^tm1.1Geh/Gabra1^tm1.1Geh
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gabra1^tm1.1Geh mutation (0 available); any Gabra1 mutation (48 available)

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

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:112951 )

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

Allelic Composition	Gabra1^tm1.1Geh/Gabra1^tm1.1Geh
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gabra1^tm1.1Geh mutation (0 available); any Gabra1 mutation (48 available)

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

nervous system

abnormal inhibitory postsynaptic currents ( J:70505 , J:103381 )

• 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

decreased physiological sensitivity to xenobiotic ( J:103381 )

• 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

♀	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)
idiopathic generalized epilepsy		DOID:1827	OMIM:600669	J:186685 , 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 (48 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 genders

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 genders

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

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gabra1^tm1.1Geh mutation (0 available); any Gabra1 mutation (48 available)
Gabra1^tm1.1Mjga mutation (0 available); any Gabra1 mutation (48 available)

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

mortality/aging

postnatal lethality ( J:227437 )

• mice die at approximately P15-P19

Allelic Composition	Cacna1g^tm1Hssh/Cacna1g^tm1Hssh Gabra1^tm1.1Geh/Gabra1^tm1.1Geh
Genetic Background	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cacna1g^tm1Hssh mutation (0 available); any Cacna1g mutation (104 available)
Gabra1^tm1.1Geh mutation (0 available); any Gabra1 mutation (48 available)

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

behavior/neurological

abnormal motor learning ( J:174980 )

• on a rotarod, mice fail to exhibit motor learning over several days unlike wild-type mice

tremors ( J:174980 )

• when moving or suspended by tail but not when relaxed

• mice exhibit stronger tremors than Cacna1g^tm1Hssh homozygotes

impaired coordination ( J:174980 )

• on a rotarod, mice exhibit reduced performance compared with wild-type mice and fail to exhibit motor learning over several days

nervous system

decreased Purkinje cell number ( J:174980 )

• mild at 8 months of age

homeostasis/metabolism

decreased physiological sensitivity to xenobiotic ( J:174980 )

• 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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