Identification of the mutation in the alkaptonuria mouse model
K Manning, JM Fernández‐Cañón… - Human …, 1999 - Wiley Online Library
K Manning, JM Fernández‐Cañón, X Montagutelli, M Grompe
Human mutation, 1999•Wiley Online LibraryAlkaptonuria (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 Hgdaku/Hgdaku mice. Two products shorter than the
wild‐type product were amplified. Restriction mapping and DNA sequencing were then used
to identify the Hgdaku mouse mutation, found to be a single base change in a splice donor …
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 Hgdaku/Hgdaku mice. Two products shorter than the
wild‐type product were amplified. Restriction mapping and DNA sequencing were then used
to identify the Hgdaku mouse mutation, found to be a single base change in a splice donor …
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 Hgdaku/Hgdaku mice. Two products shorter than the wild‐type product were amplified. Restriction mapping and DNA sequencing were then used to identify the Hgdaku 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. © 1998 Wiley‐Liss, Inc.
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