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

K. Manning, J. M. Fernández-Cañón, X. Montagutelli, M. Grompe

Research output: Contribution to journalArticle

15 Scopus citations


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.

Original languageEnglish (US)
Number of pages1
JournalHuman mutation
Issue number2
StatePublished - 1999


ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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