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

Yoshimichi Nakatsu, Rachel F. Tyndale, Timothy M. Delorey, Donna Durham-Pierre, John M. Gardner, Heather J. McDanel, Q. Nguyen, Joseph Wagstaff, Marc Lalando, James M. Sikela, Richard W. Olsent, Allan J. Tobin, Murray H. Brilliant

研究成果: ジャーナルへの寄稿学術誌査読

90 被引用数 (Scopus)

抄録

THE mouse pink-eyed cleft-palate (pcp ) mutation is characterized by hypopigmentation associated with cleft palate, neurological disorders and runting1,2. Most pcp homozygotes are born with cleft palate and die shortly after birth, presumably as a result of feeding problems3. A few exceptional pcp mutants live beyond this stage but display tremor and jerky gait2. We report here that the genes encoding the γ-aminobutyric acid type A (GABAA) receptor sub-units α5 (originally described as α4; ref. 4), β3 and γ3 are disrupted by a deletion in pcp mice. We also show that the α5 and γ3 genes are located between the p and β3 genes on mouse chromosome 7. The pcp 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 pcp mice is associated with Angelman syndrome5-9. Thus, pcp mice may be useful in defining the region containing the gene(s) for this syndrome.

本文言語英語
ページ(範囲)448-450
ページ数3
ジャーナルNature
364
6436
DOI
出版ステータス出版済み - 1993
外部発表はい

!!!All Science Journal Classification (ASJC) codes

  • 一般

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