Phenotypes associated with this allele

• Allele Symbol: Gabrb3^tm2.1Uru
• Allele Name: targeted mutation 2.1, Uwe Rudolph
• Allele ID: MGI:5908395
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gabrb3^tm2.1Uru/Gabrb3^tm2.1Uru	B6J.129S6(Cg)-Gabrb3^tm2.1Uru	MGI:5908397

Genotype
MGI:5908397

hm1

• Allelic Composition: Gabrb3^tm2.1Uru/Gabrb3^tm2.1Uru
• Genetic Background: B6J.129S6(Cg)-Gabrb3^tm2.1Uru

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

nervous system

increased susceptibility to pharmacologically induced seizures ( J:228332 )

• faster onset of first epileptiform event, enter status epilepticus sooner, and spend a greater percentage of the total time experiencing epileptiform activity after kainic acid injection

abnormal hippocampus neuron morphology ( J:228332 )

• cell surface accumulation of GABA receptors that mediate phasic inhibition and decrease in cell surface levels of GABA receptors that mediate tonic inhibition

abnormal dentate gyrus neuron dendrite morphology ( J:228332 )

• increase in spine density on dentate gyrus granule cells and spines have a more filopodia-like structure

abnormal CNS synaptic transmission ( J:228332 )

• significant decrease in tonic currents in dentate gyrus granule cells

• reduced tonic but enhanced phasic inhibition

increased excitatory postsynaptic current amplitude ( J:228332 )

• increase in amplitude but not frequency in dentate gyrus granule cells

prolonged excitatory postsynaptic current decay time ( J:228332 )

• prolonged decay time in dentate gyrus granule cells

abnormal inhibitory postsynaptic potential ( J:228332 )

• increased amplitude of inhibitory postsynaptic currents in dentate gyrus granule cells

• however, frequency and decay times are similar to wild-type controls

behavior/neurological

behavior/neurological phenotype ( J:228332 )

N • no abnormalities in motor coordination or anxiety related behavior are detected

increased susceptibility to pharmacologically induced seizures ( J:228332 )

• faster onset of first epileptiform event, enter status epilepticus sooner, and spend a greater percentage of the total time experiencing epileptiform activity after kainic acid injection

enhanced contextual conditioning behavior ( J:228332 )

• enhanced context-dependent learning

• but no difference in cued-dependent learning

abnormal response to social novelty ( J:228332 )

• show no preference for a novel mouse in a two choice assay or three chamber social interaction assay

• however, response to a novel object is similar to wild-type

increased stereotypic behavior ( J:228332 )

• increase in repetitive-like behavior in a marble burying assay

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autism spectrum disorder		DOID:0060041		J:228332