References
Query Results -- Details
MGI Accession ID: MGI:61769
J Number: J:13583
Other Accession IDs:
Title: A cluster of three GABAA receptor subunit genes is deleted in a neurological mutant of the mouse p locus.
Authors: Nakatsu Y; Tyndale RF; DeLorey TM; Durham-Pierre D; Gardner JM; McDanel HJ; Nguyen Q; Wagstaff J; Lalande M; Sikela JM; Olsen RW; Tobin AJ; Brilliant MH
Journal: Nature
Volume: 364
Issue: 6436
Date: 1993 Jul 29
Year: 1993
Pages: 448-50
Review Status: Peer Reviewed
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.
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