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 language | English (US) |
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Pages (from-to) | 171 |
Number of pages | 1 |
Journal | Human mutation |
Volume | 13 |
Issue number | 2 |
DOIs | |
State | Published - 1999 |
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)