Genetic mapping of hph2, a mutation affecting amino acid transport in the mouse

Mamm Genome. 1997 Feb;8(2):98-101. doi: 10.1007/s003359900366.

Abstract

We describe the genetic mapping of hyperphenylal-aninemia 2 (hph2), a recessive mutation in the mouse that causes deficient amino acid transport similar to Hartnup disorder, a human genetic amino acid transport disorder. The hph2 locus was mapped in three separate crosses to identify candidate genes for hph2 and a region of homology in the human genome where we propose the Hartnup Disorder gene might lie. The mutation maps to mouse Chromosome (Chr) 7 distal of the simple sequence length polymorphism (SSLP) marker D7Mit140 and does not recombine with D7Nds4, an SSLP marker in the fibroblast growth factor 3 (Fgf3) gene. Unexpectedly, the mutant chromosome affects recombination frequency in the D7Mit12 to D7Nds4 interval.

Publication types

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

MeSH terms

  • Animals
  • Biological Transport
  • Chromosome Mapping*
  • Crosses, Genetic
  • Disease Models, Animal
  • Hartnup Disease / genetics*
  • Humans
  • Mice
  • Mice, Inbred C57BL
  • Mutation
  • Phenylalanine / metabolism*

Substances

  • Phenylalanine