Cloning and chromosomal localization of mouse aquaporin 4: exclusion of a candidate mutant phenotype, ataxia.
作者信息
Turtzo L C, Lee M D, Lu M, Smith B L, Copeland N G, Gilbert D J, Jenkins N A, Agre P
机构信息
Department of Biological Chemistry, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205-2185, USA.
出版信息
Genomics. 1997 Apr 15;41(2):267-70. doi: 10.1006/geno.1997.4641.
PMID:9143504
Abstract
Aquaporin-4 is a mammalian water channel protein that is predominately expressed in brain, where it is believed to mediate water homeostasis. Here we report the isolation and characterization of the cDNA for mouse Aqp4 and map the gene to the proximal region of mouse chromosome 18. This region contains the neurological mutation ataxia, but further analysis reveals that Aqp4 is not responsible for the ataxia phenotype.
摘要
Zotero 插件