title: Cloning and chromosomal localization of mouse aquaporin 4: exclusion of a candidate mutant phenotype, ataxia.
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.
authors.affiliation: Department of Biological Chemistry, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205-2185, USA.
authors.forename: L C
authors.initials: LC
authors.lastname: Turtzo
authors.forename: M D
authors.initials: MD
authors.lastname: Lee
authors.forename: M
authors.initials: M
authors.lastname: Lu
authors.forename: B L
authors.initials: BL
authors.lastname: Smith
authors.forename: N G
authors.initials: NG
authors.lastname: Copeland
authors.forename: D J
authors.initials: DJ
authors.lastname: Gilbert
authors.forename: N A
authors.initials: NA
authors.lastname: Jenkins
authors.forename: P
authors.initials: P
authors.lastname: Agre
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D051401:Aquaporin 4; D020346:Aquaporins; D001483:Base Sequence; D002524:Cerebellar Ataxia; D002874:Chromosome Mapping; D003001:Cloning, Molecular; D018076:DNA, Complementary; D005260:Female; D006801:Humans; D007473:Ion Channels / Q000235:genetics*; D008297:Male; D051379:Mice; D008810:Mice, Inbred C57BL; D008969:Molecular Sequence Data; D009154:Mutation; D010641:Phenotype; D051381:Rats
chemical_list: C496030:AQP4 protein, human; C496031:Aqp4 protein, mouse; C496032:Aqp4 protein, rat; D051401:Aquaporin 4; D020346:Aquaporins; D018076:DNA, Complementary; D007473:Ion Channels