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Identification of the mutation in the alkaptonuria mouse model

✍ Scribed by Kara Manning; José M. Fernández-Cañón; Xavier Montagutelli; Markus Grompe

Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
54 KB
Volume
13
Category
Article
ISSN
1059-7794

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✦ Synopsis

Alkaptonuria (aku), an inborn error of metabolism caused by the loss of homogentisate 1,2dioxygenase (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.

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