title: Identification of the mutation in the alkaptonuria mouse model. Mutations in brief no. 216. Online.
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.
authors: Department of Molecular and Medical Genetics, Oregon Health Sciences University, Portland 97201, USA. manningk@ohsu.edu
authors: K
authors: K
authors: Manning
authors: J M
authors: JM
authors: Fernández-Cañón
authors: X
authors: X
authors: Montagutelli
authors: M
authors: M
authors: Grompe
mesh_terms: D000474:Alkaptonuria / Q000235:genetics*; D000818:Animals; D049308:Dioxygenases; D004195:Disease Models, Animal; D050560:Homogentisate 1,2-Dioxygenase; D051379:Mice; D008815:Mice, Inbred Strains; D009154:Mutation / Q000235:genetics*; D010105:Oxygenases / Q000172:deficiency / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods
chemical_list: D010105:Oxygenases; D049308:Dioxygenases; D050560:Homogentisate 1,2-Dioxygenase