| http://purl.uniprot.org/citations/8146195 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/8146195 | http://www.w3.org/2000/01/rdf-schema#comment | "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."xsd:string |
| http://purl.uniprot.org/citations/8146195 | http://purl.org/dc/terms/identifier | "doi:10.1073/pnas.91.7.2815"xsd:string |
| http://purl.uniprot.org/citations/8146195 | http://purl.uniprot.org/core/author | "Stubbs L.J."xsd:string |
| http://purl.uniprot.org/citations/8146195 | http://purl.uniprot.org/core/author | "Rinchik E.M."xsd:string |
| http://purl.uniprot.org/citations/8146195 | http://purl.uniprot.org/core/author | "Culiat C.T."xsd:string |
| http://purl.uniprot.org/citations/8146195 | http://purl.uniprot.org/core/author | "Russell L.B."xsd:string |
| http://purl.uniprot.org/citations/8146195 | http://purl.uniprot.org/core/author | "Montgomery C.S."xsd:string |
| http://purl.uniprot.org/citations/8146195 | http://purl.uniprot.org/core/date | "1994"xsd:gYear |
| http://purl.uniprot.org/citations/8146195 | http://purl.uniprot.org/core/name | "Proc Natl Acad Sci U S A"xsd:string |
| http://purl.uniprot.org/citations/8146195 | http://purl.uniprot.org/core/pages | "2815-2818"xsd:string |
| http://purl.uniprot.org/citations/8146195 | http://purl.uniprot.org/core/title | "Phenotypic consequences of deletion of the gamma 3, alpha 5, or beta 3 subunit of the type A gamma-aminobutyric acid receptor in mice."xsd:string |
| http://purl.uniprot.org/citations/8146195 | http://purl.uniprot.org/core/volume | "91"xsd:string |
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