Inducing mutations in the mouse genome with the chemical mutagen ethylnitrosourea

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dc.contributor.author Massironi, Sílvia Maria Gomes
dc.contributor.author Reis, B.l.f.s.
dc.contributor.author Carneiro, Juliana G.
dc.contributor.author Barbosa, Luciene B. S.
dc.contributor.author Ariza, Carolina Batista [UNIFESP]
dc.contributor.author Santos, Gilmara Cristina dos
dc.contributor.author Guénet, Jean Louis
dc.contributor.author Godard, Ana Lúcia Brunialti
dc.date.accessioned 2015-06-14T13:36:25Z
dc.date.available 2015-06-14T13:36:25Z
dc.date.issued 2006-09-01
dc.identifier http://dx.doi.org/10.1590/S0100-879X2006000900009
dc.identifier.citation Brazilian Journal of Medical and Biological Research. Associação Brasileira de Divulgação Científica, v. 39, n. 9, p. 1217-1226, 2006.
dc.identifier.issn 0100-879X
dc.identifier.uri http://repositorio.unifesp.br/handle/11600/3242
dc.description.abstract When compared to other model organisms whose genome is sequenced, the number of mutations identified in the mouse appears extremely reduced and this situation seriously hampers our understanding of mammalian gene function(s). Another important consequence of this shortage is that a majority of human genetic diseases still await an animal model. To improve the situation, two strategies are currently used: the first makes use of embryonic stem cells, in which one can induce knockout mutations almost at will; the second consists of a genome-wide random chemical mutagenesis, followed by screening for mutant phenotypes and subsequent identification of the genetic alteration(s). Several projects are now in progress making use of one or the other of these strategies. Here, we report an original effort where we mutagenized BALB/c males, with the mutagen ethylnitrosourea. Offspring of these males were screened for dominant mutations and a three-generation breeding protocol was set to recover recessive mutations. Eleven mutations were identified (one dominant and ten recessives). Three of these mutations are new alleles (Otop1mlh, Foxn1sepe and probably rodador) at loci where mutations have already been reported, while 4 are new and original alleles (carc, eqlb, frqz, and Sacc). This result indicates that the mouse genome, as expected, is far from being saturated with mutations. More mutations would certainly be discovered using more sophisticated phenotyping protocols. Seven of the 11 new mutant alleles induced in our experiment have been localized on the genetic map as a first step towards positional cloning. en
dc.format.extent 1217-1226
dc.language.iso eng
dc.publisher Associação Brasileira de Divulgação Científica
dc.relation.ispartof Brazilian Journal of Medical and Biological Research
dc.rights Acesso aberto
dc.subject Mouse en
dc.subject Ethylnitrosourea en
dc.subject Mutation en
dc.subject Co-isogenic mutations en
dc.subject Mutagenesis en
dc.title Inducing mutations in the mouse genome with the chemical mutagen ethylnitrosourea en
dc.type Artigo
dc.contributor.institution Universidade de São Paulo (USP)
dc.contributor.institution Universidade Federal de Minas Gerais Instituto de Ciências Biológicas Departamento de Biologia Geral
dc.contributor.institution Universidade Federal de São Paulo (UNIFESP)
dc.contributor.institution Institut Pasteur Département de Biologie du Développement
dc.description.affiliation Universidade de São Paulo Instituto de Ciências Biomédicas Departamento de Imunologia
dc.description.affiliation Universidade Federal de Minas Gerais Instituto de Ciências Biológicas Departamento de Biologia Geral
dc.description.affiliation Universidade Federal de São Paulo (UNIFESP) Departamento de Bioquímica Disciplina de Biologia Molecular
dc.description.affiliation Institut Pasteur Département de Biologie du Développement
dc.description.affiliationUnifesp UNIFESP, Depto. de Bioquímica Disciplina de Biologia Molecular
dc.identifier.file S0100-879X2006000900009.pdf
dc.identifier.scielo S0100-879X2006000900009
dc.identifier.doi 10.1590/S0100-879X2006000900009
dc.description.source SciELO
dc.identifier.wos WOS:000240545900009



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