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Gene Review

Gabrb3  -  gamma-aminobutyric acid (GABA) A receptor,...

Mus musculus

Synonyms: A230092K12Rik, AW049585, Cp1, GABA(A) receptor subunit beta-3, Gabrb-3, ...
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Disease relevance of Gabrb3


High impact information on Gabrb3

  • 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 [3].
  • Gene expression studies established that Snrpn is not expressed in mice with the maternal duplication and suggest that the closely-linked Gabrb-3 locus is not subject to imprinting [4].
  • Furthermore, the Gabrb3 transcript is expressed equally well from the maternal or paternal chromosome 7 and, therefore, its expression is not imprinted in mouse brain [5].
  • Gabrb3(-/-) mice also exhibited a significant increase in stretch-attend posturing, a form of risk assessment behavior associated with anxiety [2].
  • The plo 1 region maps to mouse chromosome 7 (MMU 7) between two genes, Gabrb3 and Ube3a, which have been used as anchor points to generate an integrated deletion and physical map of plo 1 that encompasses about 1.2-1.3 Mb [6].

Anatomical context of Gabrb3

  • Gabrb3 gene deficient (gabrb3(-/-)) mice, control littermates (gabrb3(+/+)) and their progenitor strains C57Bl/6J and 129/SvJ were assessed for changes in the morphology of the main noradrenergic nuclei, the locus coeruleus (LC) and LC-associated behaviors including anxiety and muscle tone [2].

Other interactions of Gabrb3

  • We have physically mapped the 1-Mb critical region, which lies between the Gabrb3 and Ube3a/Ipw genes, and DNA sequencing has localized a new member of the third subfamily of P-type ATPases to the minimal region specifying the trait [7].


  1. Concordance between isolated cleft palate in mice and alterations within a region including the gene encoding the beta 3 subunit of the type A gamma-aminobutyric acid receptor. Culiat, C.T., Stubbs, L., Nicholls, R.D., Montgomery, C.S., Russell, L.B., Johnson, D.K., Rinchik, E.M. Proc. Natl. Acad. Sci. U.S.A. (1993) [Pubmed]
  2. Gabrb3 gene deficient mice exhibit increased risk assessment behavior, hypotonia and expansion of the plexus of locus coeruleus dendrites. Hashemi, E., Sahbaie, P., Davies, M.F., Clark, J.D., Delorey, T.M. Brain Res. (2007) [Pubmed]
  3. Deficiency of the beta 3 subunit of the type A gamma-aminobutyric acid receptor causes cleft palate in mice. Culiat, C.T., Stubbs, L.J., Woychik, R.P., Russell, L.B., Johnson, D.K., Rinchik, E.M. Nat. Genet. (1995) [Pubmed]
  4. A candidate mouse model for Prader-Willi syndrome which shows an absence of Snrpn expression. Cattanach, B.M., Barr, J.A., Evans, E.P., Burtenshaw, M., Beechey, C.V., Leff, S.E., Brannan, C.I., Copeland, N.G., Jenkins, N.A., Jones, J. Nat. Genet. (1992) [Pubmed]
  5. Evaluation of potential models for imprinted and nonimprinted components of human chromosome 15q11-q13 syndromes by fine-structure homology mapping in the mouse. Nicholls, R.D., Gottlieb, W., Russell, L.B., Davda, M., Horsthemke, B., Rinchik, E.M. Proc. Natl. Acad. Sci. U.S.A. (1993) [Pubmed]
  6. Physical mapping of the pink-eyed dilution complex in mouse chromosome 7 shows that Atp10c is the only transcript between Gabrb3 and Ube3a. Dhar, M.S., Hauser, L.J., Nicholls, R.D., Johnson, D.K. DNA Seq. (2004) [Pubmed]
  7. A novel ATPase on mouse chromosome 7 is a candidate gene for increased body fat. Dhar, M., Webb, L.S., Smith, L., Hauser, L., Johnson, D., West, D.B. Physiol. Genomics (2000) [Pubmed]
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