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dc.contributor.authorMcDonald, J. Daviden_US
dc.contributor.authorCharlton, Cynthia K.en_US
dc.date.accessioned2012-01-24T17:49:31Z
dc.date.available2012-01-24T17:49:31Z
dc.date.issued1997-02-01en_US
dc.identifier9119379en_US
dc.identifier8800135en_US
dc.identifierS0888-7543(96)94508-5en_US
dc.identifier.citationGenomics. 1997 Feb 1; 39(3): 402-5.en_US
dc.identifier.issn0888-7543en_US
dc.identifier.urihttp://dx.doi.org/10.1006/geno.1996.4508
dc.identifier.urihttp://hdl.handle.net/10057/4178
dc.descriptionClick on the DOI link below to access the article (may not be free).en_US
dc.description.abstractTwo 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 PAHENU1, the phenotype is mild. The Pahenu1 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 PAHENU2, the phenotype is severe. The Pahenu2 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 PAHENU2, the sequence information was used to devise a direct genotyping system based on the creation of a new Alw26I restriction endonuclease site.en_US
dc.language.isoengen_US
dc.publisherAcademic Pressen_US
dc.relation.ispartofseriesGenomicsen_US
dc.sourceNLMen_US
dc.subjectResearch Support, Non-U.S. Gov'ten_US
dc.subjectResearch Support, U.S. Gov't, Non-P.H.S.en_US
dc.subject.meshAnimalsen_US
dc.subject.meshDisease Models, Animalen_US
dc.subject.meshHumansen_US
dc.subject.meshMiceen_US
dc.subject.meshMutationen_US
dc.subject.meshPhenylalanine Hydroxylase/geneticsen_US
dc.subject.meshPhenylketonurias/geneticsen_US
dc.subject.meshPolymerase Chain Reactionen_US
dc.subject.meshPolymorphism, Single-Stranded Conformationalen_US
dc.titleCharacterization of mutations at the mouse phenylalanine hydroxylase locusen_US
dc.typeArticleen_US
dc.description.versionpeer revieweden_US
dc.rights.holderCopyright © 1997, Elsevieren_US


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