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Mouse early transposon insertions are responsible for ∼10% of spontaneous mutant phenotypes. We previously reported the phenotypes and genetic mapping of  Polypodia , ( Ppd ), a spontaneous, X-linked dominant mutation with profound effects on body plan morphogenesis. Our new data shows that mutant mice are not born in expected Mendelian ratios secondary to loss after E9.5. In addition, we refined the  Ppd  genetic interval and discovered a novel ETnII-β early transposon insertion between the genes for  Dusp9  and  Pnck . The ETn inserted 1.6 kb downstream and antisense to  Dusp9  and does not disrupt polyadenylation or splicing of either gene. Knock-in mice engineered to carry the ETn display  Ppd  characteristic ectopic caudal limb phenotypes, showing that the ETn insertion is the  Ppd  molecular lesion. Early transposons are actively expressed in the early blastocyst. To explore the consequences of the ETn on the genomic landscape at an early stage of development, we compared interval gene expression between wild-type and mutant ES cells. Mutant ES cell expression analysis revealed marked upregulation of  Dusp9  mRNA and protein expression. Evaluation of the 5′ LTR CpG methylation state in adult mice revealed no correlation with the occurrence or severity of  Ppd  phenotypes at birth. Thus, the broad range of phenotypes observed in this mutant is secondary to a novel intergenic ETn insertion whose effects include dysregulation of nearby interval gene expression at early stages of development.

A Novel Intergenic ETnII-β Insertion Mutation Causes Multiple Malformations in Polypodia Mice