RGD Reference Report - Early-onset epilepsy and postnatal lethality associated with an editing-deficient GluR-B allele in mice. - Rat Genome Database

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Early-onset epilepsy and postnatal lethality associated with an editing-deficient GluR-B allele in mice.

Authors: Brusa, R  Zimmermann, F  Koh, DS  Feldmeyer, D  Gass, P  Seeburg, PH  Sprengel, R 
Citation: Brusa R, etal., Science 1995 Dec 8;270(5242):1677-80.
RGD ID: 737715
Pubmed: PMID:7502080   (View Abstract at PubMed)

The arginine residue at position 586 of the GluR-B subunit renders heteromeric alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionate (AMPA)-sensitive glutamate receptor channels impermeable to calcium. The codon for this arginine is introduced at the precursor messenger RNA (pre-mRNA) stage by site-selective adenosine editing of a glutamine codon. Heterozygous mice engineered by gene targeting to harbor an editing-incompetent GluR-B allele synthesized unedited GluR-B subunits and, in principal neurons and interneurons, expressed AMPA receptors with increased calcium permeability. These mice developed seizures and died by 3 weeks of age, showing that GluR-B pre-mRNA editing is essential for brain function.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Death  ISOGria2 (Mus musculus)737715; 737715 RGD 
Death  IAGP 737715 RGD 
visual epilepsy  ISOGria2 (Mus musculus)737715; 737715 RGD 
visual epilepsy  IAGP 737715 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Gria2  (glutamate ionotropic receptor AMPA type subunit 2)

Genes (Mus musculus)
Gria2  (glutamate receptor, ionotropic, AMPA2 (alpha 2))

Genes (Homo sapiens)
GRIA2  (glutamate ionotropic receptor AMPA type subunit 2)

Objects referenced in this article
Gene Gria1 glutamate receptor, ionotropic, AMPA1 (alpha 1) Mus musculus

Additional Information