| First Author | Manning K | Year | 1999 |
| Journal | Hum Mutat | Volume | 13 |
| Issue | 2 | Pages | 171 |
| PubMed ID | 10094559 | Mgi Jnum | J:54724 |
| Mgi Id | MGI:1335771 | Doi | 10.1002/(SICI)1098-1004(1999)13:2<171::AID-HUMU15>3.0.CO;2-W |
| Citation | Manning K, et al. (1999) Identification of the mutation in the alkaptonuria mouse model. Mutations in brief no. 216. Online. Hum Mutat 13(2):171 |
| abstractText | 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. |
