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

Genetic mapping of hph2, a mutation affecting amino acid transport in the mouse 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. Mammalian Genome Springer Journals

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

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Copyright © 1997 by Springer-Verlag
Life Sciences; Cell Biology; Anatomy; Zoology
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