期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 158A, 期 11, 页码 2807-2814出版社
WILEY
DOI: 10.1002/ajmg.a.35601
关键词
copy number variation (CNV); fluid consumption behavior; gene dosage effect; mouse licking assay
资金
- National Institutes of Health [R01NS060887, R01NS067201, R01NS063009]
- National Institutes of Neurological Diseases and Stroke [R01NS058529]
A quantitative long-term fluid consumption and fluid-licking assay was performed in two mouse models with either an similar to 2?Mb genomic deletion, Df(11)17, or the reciprocal duplication copy number variation (CNV), Dp(11)17, analogous to the human genomic rearrangements causing either SmithMagenis syndrome [SMS; OMIM #182290] or PotockiLupski syndrome [PTLS; OMIM #610883], respectively. Both mouse strains display distinct quantitative alterations in fluid consumption compared to their wild-type littermates; several of these changes are diametrically opposing between the two chromosome engineered mouse models. Mice with duplication versus deletion showed longer versus shorter intervals between visits to the waterspout, generated more versus less licks per visit and had higher versus lower variability in the number of licks per lick-burst as compared to their respective wild-type littermates. These findings suggest that copy number variation can affect long-term fluid consumption behavior in mice. Other behavioral differences were unique for either the duplication or deletion mutants; the deletion CNV resulted in increased variability of the licking rhythm, and the duplication CNV resulted in a significant slowing of the licking rhythm. Our findings document a readily quantitated complex behavioral response that can be directly and reciprocally influenced by a gene dosage effect. (c) 2012 Wiley Periodicals, Inc.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据