| First Author | McDonald JD | Year | 1997 |
| Journal | Genomics | Volume | 39 |
| Issue | 3 | Pages | 402-5 |
| PubMed ID | 9119379 | Mgi Jnum | J:38411 |
| Mgi Id | MGI:85781 | Doi | 10.1006/geno.1996.4508 |
| Citation | McDonald JD, et al. (1997) Characterization of mutations at the mouse phenylalanine hydroxylase locus. Genomics 39(3):402-5 |
| abstractText | Two genetic mouse models for human phenylketonuria have been characterized by DNA sequence analysis, For each, a distinct mutation was identified within the protein coding sequence of the phenylalanine hydroxylase gene. This establishes that the mutated locus is the same as that causing human phenylketonuria and allows a comparison between these mouse phenylketonuria models and the human disease. A genotype/phenotype relationship that is strikingly similar to the human disease emerges, underscoring the similarity of phenylketonuria in mouse and man. In PAH(ENU1), the phenotype is mild. The Pah(enu1) mutation predicts a conservative valine to alanine amino acid substitution and is located in exon 3, a gene region where serious mutations are rare in humans. In PAH(ENU2), the phenotype is severe. The Pah(enu2) mutation predicts a radical phenylalanine to serine substitution and is located in exon 7, a gene region where serious mutations are common in humans. In PAH(ENU2) the sequence information was used to devise a direct genotyping system based on the creation of a new Alw26I restriction endonuclease site. (C) 1997 Academic Press. |
