000136084 001__ 136084 000136084 005__ 20240321220017.0 000136084 0247_ $$2doi$$a10.1101/gr.105106.110 000136084 0247_ $$2pmid$$apmid:20548051 000136084 0247_ $$2pmc$$apmc:PMC2909578 000136084 0247_ $$2ISSN$$a1054-9803 000136084 0247_ $$2ISSN$$a1088-9051 000136084 0247_ $$2ISSN$$a1549-5469 000136084 0247_ $$2altmetric$$aaltmetric:222181 000136084 037__ $$aDZNE-2020-02406 000136084 041__ $$aEnglish 000136084 082__ $$a540 000136084 1001_ $$0P:(DE-HGF)0$$aCox, Brian J$$b0 000136084 245__ $$aPhenotypic annotation of the mouse X chromosome. 000136084 260__ $$aCold Spring Harbor, NY$$bLaboratory Press$$c2010 000136084 264_1 $$2Crossref$$3online$$bCold Spring Harbor Laboratory$$c2010-06-14 000136084 264_1 $$2Crossref$$3print$$bCold Spring Harbor Laboratory$$c2010-08-01 000136084 3367_ $$2DRIVER$$aarticle 000136084 3367_ $$2DataCite$$aOutput Types/Journal article 000136084 3367_ $$0PUB:(DE-HGF)16$$2PUB:(DE-HGF)$$aJournal Article$$bjournal$$mjournal$$s1584962344_14677 000136084 3367_ $$2BibTeX$$aARTICLE 000136084 3367_ $$2ORCID$$aJOURNAL_ARTICLE 000136084 3367_ $$00$$2EndNote$$aJournal Article 000136084 520__ $$aMutational 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/). 000136084 536__ $$0G:(DE-HGF)POF3-342$$a342 - Disease Mechanisms and Model Systems (POF3-342)$$cPOF3-342$$fPOF III$$x0 000136084 588__ $$aDataset connected to CrossRef, PubMed, 000136084 650_7 $$2NLM Chemicals$$aBCOR protein, human 000136084 650_7 $$2NLM Chemicals$$aMembrane Proteins 000136084 650_7 $$2NLM Chemicals$$aProto-Oncogene Proteins 000136084 650_7 $$2NLM Chemicals$$aRepressor Proteins 000136084 650_7 $$0EC 2.3.-$$2NLM Chemicals$$aAcyltransferases 000136084 650_7 $$0EC 2.3.1.-$$2NLM Chemicals$$aPORCN protein, human 000136084 650_2 $$2MeSH$$aAcyltransferases 000136084 650_2 $$2MeSH$$aAnimals 000136084 650_2 $$2MeSH$$aBase Sequence 000136084 650_2 $$2MeSH$$aChromosomes, Human, X: genetics 000136084 650_2 $$2MeSH$$aDNA Mutational Analysis: methods 000136084 650_2 $$2MeSH$$aGenes, Lethal 000136084 650_2 $$2MeSH$$aGenes, X-Linked 000136084 650_2 $$2MeSH$$aGenetic Diseases, X-Linked: genetics 000136084 650_2 $$2MeSH$$aGenetic Predisposition to Disease 000136084 650_2 $$2MeSH$$aGenetic Testing: methods 000136084 650_2 $$2MeSH$$aHumans 000136084 650_2 $$2MeSH$$aMembrane Proteins: genetics 000136084 650_2 $$2MeSH$$aMental Retardation, X-Linked: genetics 000136084 650_2 $$2MeSH$$aMice 000136084 650_2 $$2MeSH$$aMolecular Sequence Annotation 000136084 650_2 $$2MeSH$$aMolecular Sequence Data 000136084 650_2 $$2MeSH$$aPhenotype 000136084 650_2 $$2MeSH$$aProto-Oncogene Proteins: genetics 000136084 650_2 $$2MeSH$$aRepressor Proteins: genetics 000136084 650_2 $$2MeSH$$aX Chromosome: genetics 000136084 7001_ $$0P:(DE-HGF)0$$aVollmer, Marion$$b1 000136084 7001_ $$0P:(DE-HGF)0$$aTamplin, Owen$$b2 000136084 7001_ $$0P:(DE-HGF)0$$aLu, Mei$$b3 000136084 7001_ $$0P:(DE-HGF)0$$aBiechele, Steffen$$b4 000136084 7001_ $$0P:(DE-HGF)0$$aGertsenstein, Marina$$b5 000136084 7001_ $$0P:(DE-HGF)0$$avan Campenhout, Claude$$b6 000136084 7001_ $$0P:(DE-HGF)0$$aFloss, Thomas$$b7 000136084 7001_ $$0P:(DE-HGF)0$$aKühn, Ralf$$b8 000136084 7001_ $$0P:(DE-2719)2000028$$aWurst, Wolfgang$$b9$$udzne 000136084 7001_ $$0P:(DE-HGF)0$$aLickert, Heiko$$b10$$eCorresponding author 000136084 7001_ $$0P:(DE-HGF)0$$aRossant, Janet$$b11 000136084 77318 $$2Crossref$$3journal-article$$a10.1101/gr.105106.110$$b : Cold Spring Harbor Laboratory, 2010-06-14$$n8$$p1154-1164$$tGenome Research$$v20$$x1088-9051$$y2010 000136084 773__ $$0PERI:(DE-600)1483456-X$$a10.1101/gr.105106.110$$gVol. 20, no. 8, p. 1154 - 1164$$n8$$p1154-1164$$q20:8<1154 - 1164$$tGenome research$$v20$$x1088-9051$$y2010 000136084 8567_ $$2Pubmed Central$$uhttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC2909578 000136084 909CO $$ooai:pub.dzne.de:136084$$pVDB 000136084 9101_ $$0I:(DE-588)1065079516$$6P:(DE-2719)2000028$$aDeutsches Zentrum für Neurodegenerative Erkrankungen$$b9$$kDZNE 000136084 9131_ $$0G:(DE-HGF)POF3-342$$1G:(DE-HGF)POF3-340$$2G:(DE-HGF)POF3-300$$aDE-HGF$$bForschungsbereich Gesundheit$$lErkrankungen des Nervensystems$$vDisease Mechanisms and Model Systems$$x0 000136084 9141_ $$y2010 000136084 915__ $$0StatID:(DE-HGF)0200$$2StatID$$aDBCoverage$$bSCOPUS 000136084 915__ $$0StatID:(DE-HGF)0300$$2StatID$$aDBCoverage$$bMedline 000136084 915__ $$0StatID:(DE-HGF)0310$$2StatID$$aDBCoverage$$bNCBI Molecular Biology Database 000136084 915__ $$0StatID:(DE-HGF)0320$$2StatID$$aDBCoverage$$bPubMed Central 000136084 915__ $$0StatID:(DE-HGF)0600$$2StatID$$aDBCoverage$$bEbsco Academic Search 000136084 915__ $$0StatID:(DE-HGF)0030$$2StatID$$aPeer Review$$bASC 000136084 915__ $$0StatID:(DE-HGF)0199$$2StatID$$aDBCoverage$$bClarivate Analytics Master Journal List 000136084 915__ $$0StatID:(DE-HGF)0110$$2StatID$$aWoS$$bScience Citation Index 000136084 915__ $$0StatID:(DE-HGF)0150$$2StatID$$aDBCoverage$$bWeb of Science Core Collection 000136084 915__ $$0StatID:(DE-HGF)0111$$2StatID$$aWoS$$bScience Citation Index Expanded 000136084 915__ $$0StatID:(DE-HGF)1030$$2StatID$$aDBCoverage$$bCurrent Contents - Life Sciences 000136084 915__ $$0StatID:(DE-HGF)1050$$2StatID$$aDBCoverage$$bBIOSIS Previews 000136084 915__ $$0StatID:(DE-HGF)0100$$2StatID$$aJCR$$bGENOME RES : 2017 000136084 915__ $$0StatID:(DE-HGF)9910$$2StatID$$aIF >= 10$$bGENOME RES : 2017 000136084 9201_ $$0I:(DE-2719)1140001$$kAG Wurst$$lGenome Engineering$$x0 000136084 980__ $$ajournal 000136084 980__ $$aVDB 000136084 980__ $$aI:(DE-2719)1140001 000136084 980__ $$aUNRESTRICTED