Human Molecular Genetics, Vol 6, 425-433, Copyright © 1997 by Oxford University Press
C Cecchi, M Biasotto, M Tosi and P Avner
Mutations in the Atp7a gene, the mouse homologue of the MNK (ATP7A) gene,
have been suggested to be responsible for the mottled phenotype. To date,
despite considerable effort, changes associated with the mottled mutations
have been detected in only two such mutants. In this study, we identify
changes in the level of Atp7a transcript and mutations which could explain
the mottled phenotype in nine out of the 10 mutants analysed. The
fluorescence-assisted mismatch analysis method used here has proved
particularly well suited for mRNA scanning of heterozygous carrier animals,
because of its ability to detect mutations even in the presence of an
excess of wild-type mRNA. The three new underlying mutations identified at
the Atp7a locus include a splice mutation and two missense mutations. While
the spectrum of mutations detected in the Atp7a murine gene provides an
explanation for at least part of the wide phenotypic variation observed in
mottled mutant mice, there is a singular absence of deletions which are
associated with a sizeable fraction of human Menkes syndrome cases.
ARTICLES
The mottled mouse as a model for human Menkes disease: identification of mutations in the Atp7a gene [published erratum appears in Hum Mol Genet 1997 May;6(5):829]
Unite de Genetique Moleculaire Murine, Institut Pasteur, Paris, France.
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