title: Genetic mapping of hph2, a mutation affecting amino acid transport in the mouse.
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.
authors.affiliation: McArdle Laboratory for Cancer Research, University of Wisconsin, Madison 53706, USA.
authors.forename: D J
authors.initials: DJ
authors.lastname: Symula
authors.forename: A
authors.initials: A
authors.lastname: Shedlovsky
authors.forename: W F
authors.initials: WF
authors.lastname: Dove
mesh_terms: D000818:Animals; D001692:Biological Transport; D002874:Chromosome Mapping; D003433:Crosses, Genetic; D004195:Disease Models, Animal; D006250:Hartnup Disease / Q000235:genetics*; D006801:Humans; D051379:Mice; D008810:Mice, Inbred C57BL; D009154:Mutation; D010649:Phenylalanine / Q000378:metabolism*
chemical_list: D010649:Phenylalanine