| First Author | Symula DJ | Year | 1997 |
| Journal | Mamm Genome | Volume | 8 |
| Issue | 2 | Pages | 98-101 |
| PubMed ID | 9060407 | Mgi Jnum | J:38912 |
| Mgi Id | MGI:86298 | Doi | 10.1007/s003359900366 |
| Citation | Symula DJ, et al. (1997) Genetic mapping of hph2, a mutation affecting amino acid transport in the mouse. Mamm Genome 8(2):98-101 |
| abstractText | 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. |
