Phenotypes associated with this allele

• Allele Symbol: Gabbr1^tm1Pngl
• Allele Name: targeted mutation 1, Menelas N Pangelos
• Allele ID: MGI:2159354
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gabbr1^tm1Pngl/Gabbr1^tm1Pngl	involves: 129P2/OlaHsd * C57BL/6J	MGI:3845862
ht2	Gabbr1^tm1Pngl/Gabbr1^+	involves: 129P2/OlaHsd * C57BL/6J	MGI:3845863

Genotype
MGI:3845862

hm1

• Allelic Composition: Gabbr1^tm1Pngl/Gabbr1^tm1Pngl
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:70254 )

• mean life expectancy is 21 days

• mice typically die as a result of recurrent sporadic seizures

nervous system

nervous system phenotype ( J:70254 )

N • despite seizures, no abnormalities in brain cyto- or histoarchitecture are detected

tonic-clonic seizures ( J:70254 )

• seizures are characterized by wild running followed by fore and hindlimb clonus and tonus followed by a period of postictal behavioral depression

sporadic seizures ( J:70254 )

• develop spontaneous seizures by P12

• seizures can be provoked by mild stressors such as cage movement or gentle handling

abnormal nervous system electrophysiology ( J:70254 )

• baclofen treatment fails to induce postsynaptic GABAB receptor mediated hyperpolarization

• in hippocampal slices treated with bicuculline intertictal bursts are significantly prolonged and an increase in the number of secondary discharges evoked following the primary burst is seen

• hippocampal slices taken from mice that experienced multiple seizures show a more pronounced ictal discharge pattern of epileptiform activity

abnormal action potential ( J:70254 )

• baclofen fails to reduce action potential firing rates in hippocampal, dorsal Raphe, and arcuate nucleus neurons unlike in wild-type controls

abnormal inhibitory postsynaptic potential ( J:70254 )

• single pulse afferent stimulation fails to elicit GABAB receptor mediated IPSP

growth/size/body

decreased body weight ( J:70254 )

• by P21

behavior/neurological

tonic-clonic seizures ( J:70254 )

• seizures are characterized by wild running followed by fore and hindlimb clonus and tonus followed by a period of postictal behavioral depression

sporadic seizures ( J:70254 )

• develop spontaneous seizures by P12

• seizures can be provoked by mild stressors such as cage movement or gentle handling

Genotype
MGI:3845863

ht2

• Allelic Composition: Gabbr1^tm1Pngl/Gabbr1⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

nervous system

increased prepulse inhibition ( J:70254 )

• seen in females at prepulses of 90 dB at 12 and 20 kHz and in males at prepulses of 90 dB at 12