TY - JOUR
T1 - Identification of the mutation in the alkaptonuria mouse model. Mutations in brief no. 216. Online.
AU - Manning, K.
AU - Fernández-Cañón, J. M.
AU - Montagutelli, X.
AU - Grompe, M.
PY - 1999
Y1 - 1999
N2 - 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.
AB - 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.
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U2 - 10.1002/(sici)1098-1004(1999)13:2<171::aid-humu15>3.3.co;2-n
DO - 10.1002/(sici)1098-1004(1999)13:2<171::aid-humu15>3.3.co;2-n
M3 - Article
C2 - 10094559
AN - SCOPUS:0032601948
SN - 1059-7794
VL - 13
SP - 171
JO - Human mutation
JF - Human mutation
IS - 2
ER -