
pmid: 20548051
pmc: PMC2909578
Mutational screens are an effective means used in the functional annotation of a genome. We present a method for a mutational screen of the mouse X chromosome using gene trap technologies. This method has the potential to screen all of the genes on the X chromosome without establishing mutant animals, as all gene-trapped embryonic stem (ES) cell lines are hemizygous null for mutations on the X chromosome. Based on this method, embryonic morphological phenotypes and expression patterns for 58 genes were assessed, ∼10% of all human and mouse syntenic genes on the X chromosome. Of these, 17 are novel embryonic lethal mutations and nine are mutant mouse models of genes associated with genetic disease in humans, including BCOR and PORCN. The rate of lethal mutations is similar to previous mutagenic screens of the autosomes. Interestingly, some genes associated with X-linked mental retardation (XLMR) in humans show lethal phenotypes in mice, suggesting that null mutations cannot be responsible for all cases of XLMR. The entire data set is available via the publicly accessible website (http://xlinkedgenes.ibme.utoronto.ca/).
DNA Mutational Analysis, Lethal, Mice, Mental Retardation, Genes, X-Linked, genetics [Genetic Diseases, X-Linked], genetics [Chromosomes, Human, X], X -- genetics, Repressor Proteins -- genetics, Membrane Proteins -- genetics, genetics [Mental Retardation, X-Linked], BCOR protein, human, Genetic Diseases, X-Linked, Sciences bio-médicales et agricoles, methods [DNA Mutational Analysis], X Chromosome -- genetics, genetics [Membrane Proteins], Genetic Testing -- methods, Phenotype, Genetic Diseases, X-Linked -- genetics, Human, Proto-Oncogene Proteins -- genetics, X Chromosome, methods [Genetic Testing], genetics [X Chromosome], Molecular Sequence Data, Chromosomes, X-Linked Intellectual Disability, Proto-Oncogene Proteins, Animals, Humans, Genetic Predisposition to Disease, Genetic Testing, Chromosomes, Human, X, Base Sequence, PORCN protein, human, Membrane Proteins, Molecular Sequence Annotation, X-Linked, Repressor Proteins, genetics [Repressor Proteins], Genes, DNA Mutational Analysis -- methods, Genes, Lethal, genetics [Proto-Oncogene Proteins], Acyltransferases, ddc: ddc:540
DNA Mutational Analysis, Lethal, Mice, Mental Retardation, Genes, X-Linked, genetics [Genetic Diseases, X-Linked], genetics [Chromosomes, Human, X], X -- genetics, Repressor Proteins -- genetics, Membrane Proteins -- genetics, genetics [Mental Retardation, X-Linked], BCOR protein, human, Genetic Diseases, X-Linked, Sciences bio-médicales et agricoles, methods [DNA Mutational Analysis], X Chromosome -- genetics, genetics [Membrane Proteins], Genetic Testing -- methods, Phenotype, Genetic Diseases, X-Linked -- genetics, Human, Proto-Oncogene Proteins -- genetics, X Chromosome, methods [Genetic Testing], genetics [X Chromosome], Molecular Sequence Data, Chromosomes, X-Linked Intellectual Disability, Proto-Oncogene Proteins, Animals, Humans, Genetic Predisposition to Disease, Genetic Testing, Chromosomes, Human, X, Base Sequence, PORCN protein, human, Membrane Proteins, Molecular Sequence Annotation, X-Linked, Repressor Proteins, genetics [Repressor Proteins], Genes, DNA Mutational Analysis -- methods, Genes, Lethal, genetics [Proto-Oncogene Proteins], Acyltransferases, ddc: ddc:540
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