Mammalian Genome

, 8:98

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

  • D. J. Symula
  • A. Shedlovsky
  • W. F. Dove
Original Contribution

DOI: 10.1007/s003359900366

Cite this article as:
Symula, D.J., Shedlovsky, A. & Dove, W.F. Mammalian Genome (1997) 8: 98. doi:10.1007/s003359900366
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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.

Copyright information

© Springer-Verlag 1997

Authors and Affiliations

  • D. J. Symula
    • 1
    • 2
  • A. Shedlovsky
    • 1
  • W. F. Dove
    • 2
  1. 1.McArdle Laboratory for Cancer ResearchUniversity of WisconsinMadisonUSA
  2. 2.Laboratory of GeneticsUniversity of WisconsinMadisonUSA
  3. 3.Lawrence Berkeley LaboratoryBerkeleyUSA

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