Phenotypic annotation of the mouse X chromosome

Item Type:	Article
Title:	Phenotypic annotation of the mouse X chromosome
Creators Name:	Cox, B.J. and Vollmer, M. and Tamplin, O. and Lu, M. and Biechele, S. and Gertsenstein, M. and van Campenhout, C. and Floss, T. and Kühn, R. and Wurst, W. and Lickert, H. and Rossant, J.
Abstract:	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, approximately 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/).
Keywords:	Base Sequence, Human X Chromosomes, DNA Mutational Analysis, Lethal Genes, X-Linked Genes, X-Linked Genetic Diseases, Genetic Predisposition to Disease, Genetic Testing, Membrane Proteins, X-Linked Mental Retardation, Molecular Sequence Annotation, Molecular Sequence Data, Phenotype, Proto-Oncogene Proteins, Repressor Proteins, X Chromosome, Animals, Mice
Source:	Genome Research
ISSN:	1088-9051
Publisher:	Cold Spring Harbor Laboratory Press
Volume:	20
Number:	8
Page Range:	1154-1164
Date:	August 2010
Official Publication:	https://doi.org/10.1101/gr.105106.110
PubMed:	View item in PubMed

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