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

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(...

Full description

Saved in:
Bibliographic Details
Published inHuman mutation Vol. 13; no. 2; p. 171
Main Authors Manning, K, Fernández-Cañón, J M, Montagutelli, X, Grompe, M
Format Journal Article
LanguageEnglish
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
Online AccessGet full text

Cover

More Information
Summary: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.
ISSN:1059-7794
DOI:10.1002/(sici)1098-1004(1999)13:2<171::aid-humu15>3.3.co;2-n