Phenotypes Associated with This Genotype

Genotype
MGI:2654778

• Allelic Composition: Adarb1^tm1Phs/Adarb1^tm1Phs
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

mortality/aging

postnatal lethality, complete penetrance ( J:63273 )

• homozygous null mice die young between P0 and P20

• Q/R site editing in primary Gria2 transcripts is 10-fold lower in homozygous null mice relative to wild-type; authors identified the Q/R site codon in Gria2 pre-mRNA as a crucial physiological substrate of ADARB1, perhaps the only one at which editing is required for postnatal viability

behavior/neurological

seizures ( J:63273 )

• homozygotes display a progressive susceptibility to seizures after P12

nervous system

seizures ( J:63273 )

• homozygotes display a progressive susceptibility to seizures after P12

abnormal AMPA-mediated synaptic currents ( J:63273 )

• AMPA receptor-mediated currents in brain slices from nucleated patches of CA1 pyramidal cells and other principal neurons show pronounced rectification, increased desensitization rates and a 30-fold higher Ca2+ permeability

• the macroscopic AMPA receptor-mediated conductance in CA1 pyramidal cells is significantly higher than in mouse mutants expressing editing-deficient Gria2 genes, and appears to be the primary cause for the high seizure susceptibility of young mice expressing Q/R site-unedited Gria2 transcripts