ArticleProceedings of the National Academy of Sciences of the United States of America1994
Phenotypic consequences of deletion of the gamma 3, alpha 5, or beta 3 subunit of the type A gamma-aminobutyric acid receptor in mice.
Article in Proceedings of the National Academy of Sciences of the United States of America, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 111 citations in OpenAlex.
- Article
- Shisa7 phosphorylation regulates GABAergic transmission and neurodevelopmental behaviors.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2022Article
- An association study in the Taiwan Biobank elicits the GABAA receptor genes GABRB3, GABRA5, and GABRG3 as candidate loci for sleep duration in the Taiwanese population.BMC medical genomics · 2021Article
- GABAIUPHAR/BPS guide to pharmacology CITE · 2021Article
- Electrophysiology of ionotropic GABA receptors.Cellular and molecular life sciences : CMLS · 2021Review
- Genetic analysis of GABRB3 as a candidate gene of autism spectrum disorders.Molecular autism · 2014Article
- Effects of inhibitory amino acids on expression of GABAA Rα and glycine Rα1 in hypoxic rat cortical neurons during development.Brain research · 2011Article
- Ion channels and ionotropic receptors in human embryonic stem cell derived neural progenitors.Neuroscience · 2011Article
- The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13.Neurobiology of disease · 2010Review
- GABA effects during neuronal differentiation of stem cells.Neurochemical research · 2008Review
- Immunologic and neurodevelopmental susceptibilities of autism.Neurotoxicology · 2008Review
- New insight into the role of the beta3 subunit of the GABAA-R in development, behavior, body weight regulation, and anesthesia revealed by conditional gene knockout.BMC neuroscience · 2007Article
- 15q11-13 GABAA receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disorders.Human molecular genetics · 2007Article
- Dynamic expression of a glutamate decarboxylase gene in multiple non-neural tissues during mouse development.BMC developmental biology · 2001Article
- Unequal expression of allelic kainate receptor GluR7 mRNAs in human brains.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2000Article
- A sequence-ready BAC contig of the GABAA receptor gene cluster Gabrg1-Gabra2-Gabrb1 on mouse chromosome 5.Genome research · 1999Article
- Genomic imprinting: implications for human disease.The American journal of pathology · 1999Review
- A model system to study genomic imprinting of human genes.Proceedings of the National Academy of Sciences of the United States of America · 1998Article
- The diversity of GABAA receptors. Pharmacological and electrophysiological properties of GABAA channel subtypes.Molecular neurobiology · 1998Review
- Linkage-disequilibrium mapping of autistic disorder, with 15q11-13 markers.American journal of human genetics · 1998Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Three genes (Gabrg3, Gabra5, and Gabrb3) encoding the gamma 3, alpha 5, and beta 3 subunits of the type A gamma-aminobutyric acid receptor, respectively, are known to map near the pink-eyed dilution (p) locus in mouse chromosome 7. This region shares homology with a segment of human chromosome 15 that is implicated in Angelman syndrome, an inherited neurobehavioral disorder. By mapping Gabrg3 on a panel of p-locus deletions, we have determined that the order of genes within this cluster is centromere-p(D15S12h)-Gabrg3-Gabra5-Gabrb3-telom ere. Like Gabrb3, neither the Gabra5 nor Gabrg3 gene is functionally imprinted in adult mouse brain. Mice deleted for all three subunits die at birth with a cleft palate, although there are rare survivors (approximately 5%) that do not have a cleft palate but do exhibit a neurological abnormality characterized by tremor, jerky gait, and runtiness. We have previously suggested that deficiency of the beta 3 subunit may be responsible for the clefting defect. Most notably, however, in this report we describe mice carrying two overlapping, complementing p deletions that fail to express the gamma 3 transcript, as well as mice from another line that express neither the gamma 3 nor alpha 5 transcripts. Surprisingly, mice from both of these lines are phenotypically normal and do not exhibit any of the neurological symptoms characteristic of the rare survivors that are deleted for all three (gamma 3, alpha 5, and beta 3) subunits. These mice therefore provide a whole-organism type A gamma-aminobutyric-acid receptor background that is devoid of any receptor subtypes that normally contain the gamma 3 and/or alpha 5 subunits. The absence of an overt neurological phenotype in mice lacking the gamma 3 and/or alpha 5 subunits also suggests that mutations in these genes are unlikely to provide useful animal models for Angelman syndrome in humans.
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