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These experiments showed that mice with just one working copy of the Fgf8 gene and one working copy of the Chd7 gene had a small cerebellar vermis.
Mice lacking one working copy of the gene did not have any obvious cerebellar phenotype, but cerebellar vermis hypoplasia was evident when one copy of the Fgf8 gene was also removed, suggesting genetic synergy between Chd7 and Fgf8.
However, embryos that had one working copy of the Chd7 gene survived, and Yu et al. took advantage of this to study the effects of reduced FGF8 expression on these mice.
Animal studies have suggested that during brain development, netrin tells growing nerve fibers to cross over to the other side of the brain, and Rouleau speculates that the message might not always get through in people with only one working copy of the DCC receptor.
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Because they implicitly consider one single working copy, revision control systems do not scale up well to perform simultaneous analyses of multiple versions of systems.
Gene therapy introduces a whole new working copy of a gene, which randomly incorporates into the genome to do the job of the faulty one.
Yu et al. also report the results of experiments of mice lacking one or both working copies of the Chd7 gene.
Mice should have two working copies of the Chd7 gene, and mice that lack one of these suffer from symptoms similar to those of humans with CHARGE syndrome.
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