Referenced in: none

Automatically associated channels: Kir6.2

Title: A cluster of three GABAA receptor subunit genes is deleted in a neurological mutant of the mouse p locus.

Authors: Y Nakatsu, R F Tyndale, T M DeLorey, D Durham-Pierre, J M Gardner, H J McDanel, Q Nguyen, J Wagstaff, M Lalande, J M Sikela

Journal, date & volume: Nature, 1993 Jul 29 , 364, 448-50

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/8392662

Abstract
The mouse pink-eyed cleft-palate (p(cp)) mutation is characterized by hypopigmentation associated with cleft palate, neurological disorders and runting. Most p(cp) homozygotes are born with cleft palate and die shortly after birth, presumably as a result of feeding problems. A few exceptional p(cp) mutants live beyond this stage but display tremor and jerky gait. We report here that the genes encoding the gamma-aminobutyric acid type A (GABAA) receptor subunits alpha 5 (originally described as alpha 4; ref. 4), beta 3 and gamma 3 are disrupted by a deletion in p(cp) mice. We also show that the alpha 5 and gamma 3 genes are located between the p and beta 3 genes on mouse chromosome 7. The p(cp) deletion leads to alterations of binding properties of the GABAA receptors in the brain, providing an in vivo model system for studying GABAA receptor function. The human homologue of the region deleted in p(cp) mice is associated with Angelman syndrome. Thus, p(cp) mice may be useful in defining the region containing the gene(s) for this syndrome.