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

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

Research output: Contribution to journalArticle

13 Citations (Scopus)

Abstract

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)
Pages (from-to)171
Number of pages1
JournalHuman Mutation
Volume13
Issue number2
StatePublished - 1999

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Alkaptonuria
Mutation
Homogentisate 1,2-Dioxygenase
Ethylnitrosourea
Inborn Errors Metabolism
Restriction Mapping
Consensus Sequence
DNA Sequence Analysis
Mutagenesis
Exons
Complementary DNA
Alleles
Polymerase Chain Reaction

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Identification of the mutation in the alkaptonuria mouse model. Mutations in brief no. 216. Online. / Manning, K.; Fernández-Cañón, J. M.; Montagutelli, X.; Grompe, Markus.

In: Human Mutation, Vol. 13, No. 2, 1999, p. 171.

Research output: Contribution to journalArticle

Manning, K, Fernández-Cañón, JM, Montagutelli, X & Grompe, M 1999, 'Identification of the mutation in the alkaptonuria mouse model. Mutations in brief no. 216. Online.', Human Mutation, vol. 13, no. 2, pp. 171.
Manning, K. ; Fernández-Cañón, J. M. ; Montagutelli, X. ; Grompe, Markus. / Identification of the mutation in the alkaptonuria mouse model. Mutations in brief no. 216. Online. In: Human Mutation. 1999 ; Vol. 13, No. 2. pp. 171.
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