Original Contribution

Mammalian Genome

, Volume 8, Issue 2, pp 98-101

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

  • D. J. SymulaAffiliated withMcArdle Laboratory for Cancer Research, University of WisconsinLaboratory of Genetics, University of Wisconsin
  • , A. ShedlovskyAffiliated withMcArdle Laboratory for Cancer Research, University of Wisconsin
  • , W. F. DoveAffiliated withLaboratory of Genetics, University of Wisconsin

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Abstract

We describe the genetic mapping of hyperphenylalaninemia 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.