title: Deficiency of the beta 3 subunit of the type A gamma-aminobutyric acid receptor causes cleft palate in mice.
abstract: In addition to its function in the nervous system, gamma-aminobutyric acid (GABA) has been implicated in mouse craniofacial development by the results of both teratological, and genetic studies. We previously reported that disruption of the cleft palate 1 (cp1) locus, closely linked to the pink-eyed dilution (p) locus on mouse chromosome 7, causes a 95% penetrant, recessive, neonatally-lethal cleft palate (CP) in mice homozygous for the p(4THO-II) deletion. We proposed that the beta 3 subunit gene (Gabrb3) of the GABAA receptor might be a candidate for cp1 (ref. 4); our earlier studies had localized cp1 to an interval beginning distal to the gene for the GABAA receptor alpha 5 subunit (Gabra5) and ending within the Gabrb3 coding region. To test the hypothesis that deletion of Gabrb3, and not another gene in the interval, causes CP, we performed an experiment to rescue the CP phenotype by introducing a Gabrb3 transgene into p(4THO-II) homozygotes. We now show that such transgenic mice are phenotypically normal, indicating that Gabrb3 is indeed the cp1 locus.
authors.affiliation: Biology Division, Oak Ridge National Laboratory, Tennessee 37831-8077, USA.
authors.forename: C T
authors.initials: CT
authors.lastname: Culiat
authors.forename: L J
authors.initials: LJ
authors.lastname: Stubbs
authors.forename: R P
authors.initials: RP
authors.lastname: Woychik
authors.forename: L B
authors.initials: LB
authors.lastname: Russell
authors.forename: D K
authors.initials: DK
authors.lastname: Johnson
authors.forename: E M
authors.initials: EM
authors.lastname: Rinchik
mesh_terms: D000818:Animals; D002972:Cleft Palate / Q000235:genetics*; D051379:Mice; D008822:Mice, Transgenic; D018079:Receptors, GABA / Q000235:genetics*; D015183:Restriction Mapping
chemical_list: D018079:Receptors, GABA