Cloning and chromosomal localization of mouse aquaporin 4: exclusion of a candidate mutant phenotype, ataxia

Genomics. 1997 Apr 15;41(2):267-70. doi: 10.1006/geno.1997.4641.

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.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Aquaporin 4
  • Aquaporins*
  • Base Sequence
  • Cerebellar Ataxia
  • Chromosome Mapping*
  • Cloning, Molecular
  • DNA, Complementary
  • Female
  • Humans
  • Ion Channels / genetics*
  • Male
  • Mice
  • Mice, Inbred C57BL
  • Molecular Sequence Data
  • Mutation
  • Phenotype
  • Rats

Substances

  • AQP4 protein, human
  • Aqp4 protein, mouse
  • Aqp4 protein, rat
  • Aquaporin 4
  • Aquaporins
  • DNA, Complementary
  • Ion Channels

Associated data

  • GENBANK/U88623