Identification of the mutation in the alkaptonuria mouse model. Mutations in brief no. 216. Online

• Published in: Human mutation Vol. 13; no. 2; p. 171
• Main Authors: Manning, K, Fernández-Cañón, J M, Montagutelli, X, Grompe, M
• Format: Journal Article
• Language: English
• Published: United States 1999
• Subjects: Alkaptonuria - genetics; Animals; Dioxygenases; Disease Models, Animal; Homogentisate 1,2-Dioxygenase; Mice; Mice, Inbred Strains; Mutation - genetics; Oxygenases - deficiency; Oxygenases - genetics; Reverse Transcriptase Polymerase Chain Reaction - methods
• DOI: 10.1002/(sici)1098-1004(1999)13:2<171::aid-humu15>3.3.co;2-n
• ISSN: 1059-7794

Alkaptonuria (aku), an inborn error of metabolism caused by the loss of homogentisate 1,2-dioxygenase (HGD), has been described in a mouse model created by ethylnitrosourea mutagenesis but the mutation in these mice has not previously been identified. We used RT-PCR to amplify the Hgd cDNA from Hgd(aku)/Hgd(aku) mice. Two products shorter than the wild-type product were amplified. Restriction mapping and DNA sequencing were then used to identify the Hgd(aku) mouse mutation, found to be a single base change in a splice donor consensus sequence, causing exon skipping and frame-shifted products. This base change allowed us to create a non-radioactive genotyping assay for this allele.