Phenotypic differences in the brains and limbs of mutant mice caused by differences of Gli3 gene expression levels

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<jats:p><jats:bold>ABSTRACT </jats:bold> The genetic polydactyly/arhinencephaly mouse, <jats:italic>Pdn/Pdn</jats:italic>, exhibits severe polydactyly both in the fore‐and hindlimbs, agenesis of the olfactory bulbs, corpus callosum, anterior commissure, and hydrocephalus. A candidate gene for the <jats:italic>Pdn</jats:italic> mouse has been speculated to be <jats:italic>Gli3</jats:italic>, because <jats:italic>Pdn</jats:italic> has been considered to be an allele of <jats:italic>Xt</jats:italic> whose responsible gene has been clarified to be <jats:italic>Gli3.</jats:italic> Recently, it has been cleared that retro‐transposons are inserted into nitron 3, upstream of zinc finger domain, of the <jats:italic>Gli3</jats:italic> gene in the <jats:italic>Pdn</jats:italic> mouse, resulting to the severe suppression of <jats:italic>Gli3</jats:italic> gene expression in <jats:italic>Pdn/Pdn</jats:italic> embryos. Meanwhile, <jats:italic>Xt<jats:sup>J</jats:sup>/Xt<jats:sup>J</jats:sup></jats:italic> mice exhibit more severe polydactyly than that of <jats:italic>Pdn/Pdn.</jats:italic> Arhinencephaly and microholoprosencephaly including agenesis of the olfactory bulbs, corpus callosum, anterior commissure, hippocampal commissure, habenular commissure, and posterior commissure, and moreover, the cerebral cortical plates and hippocampus are not formed in the <jats:italic>Xt<jats:sup>J</jats:sup>/Xt<jats:sup>J</jats:sup></jats:italic> mice. The <jats:italic>Xt<jats:sup>J</jats:sup>/Xt<jats:sup>J</jats:sup></jats:italic> mouse has a large deletion in <jats:italic>Gli3</jats:italic> structural gene and shows null expression. From these corroborations, we speculated that the differences in the <jats:italic>Gli3</jats:italic> gene expression levels resulted in the phenotypic differences between the <jats:italic>Pdn/Pdn</jats:italic> and <jats:italic>Xt<jats:sup>J</jats:sup>/Xt<jats:sup>J</jats:sup></jats:italic> mice.</jats:p>

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