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(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.
Manning
K
K
Department of Molecular and Medical Genetics, Oregon Health Sciences University, Portland 97201, USA. manningk@ohsu.edu
Fernández-Cañón
J M
JM
Montagutelli
X
X
Grompe
M
M
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
D010105:Oxygenases; D049308:Dioxygenases; D050560:Homogentisate 1,2-Dioxygenase