Home > Publications Database > Phenotypic annotation of the mouse X chromosome. > print

001     136084
005     20240321220017.0
024 7 _ |a 10.1101/gr.105106.110
|2 doi
024 7 _ |a pmid:20548051
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024 7 _ |a pmc:PMC2909578
|2 pmc
024 7 _ |a 1054-9803
|2 ISSN
024 7 _ |a 1088-9051
|2 ISSN
024 7 _ |a 1549-5469
|2 ISSN
024 7 _ |a altmetric:222181
|2 altmetric
037 _ _ |a DZNE-2020-02406
041 _ _ |a English
082 _ _ |a 540
100 1 _ |a Cox, Brian J
|0 P:(DE-HGF)0
|b 0
245 _ _ |a Phenotypic annotation of the mouse X chromosome.
260 _ _ |a Cold Spring Harbor, NY
|c 2010
|b Laboratory Press
264 _ 1 |3 online
|2 Crossref
|b Cold Spring Harbor Laboratory
|c 2010-06-14
264 _ 1 |3 print
|2 Crossref
|b Cold Spring Harbor Laboratory
|c 2010-08-01
336 7 _ |a article
|2 DRIVER
336 7 _ |a Output Types/Journal article
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336 7 _ |a Journal Article
|b journal
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|0 PUB:(DE-HGF)16
|s 1584962344_14677
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336 7 _ |a ARTICLE
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336 7 _ |a JOURNAL_ARTICLE
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336 7 _ |a Journal Article
|0 0
|2 EndNote
520 _ _ |a 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/).
536 _ _ |a 342 - Disease Mechanisms and Model Systems (POF3-342)
|0 G:(DE-HGF)POF3-342
|c POF3-342
|f POF III
|x 0
588 _ _ |a Dataset connected to CrossRef, PubMed,
650 _ 7 |a BCOR protein, human
|2 NLM Chemicals
650 _ 7 |a Membrane Proteins
|2 NLM Chemicals
650 _ 7 |a Proto-Oncogene Proteins
|2 NLM Chemicals
650 _ 7 |a Repressor Proteins
|2 NLM Chemicals
650 _ 7 |a Acyltransferases
|0 EC 2.3.-
|2 NLM Chemicals
650 _ 7 |a PORCN protein, human
|0 EC 2.3.1.-
|2 NLM Chemicals
650 _ 2 |a Acyltransferases
|2 MeSH
650 _ 2 |a Animals
|2 MeSH
650 _ 2 |a Base Sequence
|2 MeSH
650 _ 2 |a Chromosomes, Human, X: genetics
|2 MeSH
650 _ 2 |a DNA Mutational Analysis: methods
|2 MeSH
650 _ 2 |a Genes, Lethal
|2 MeSH
650 _ 2 |a Genes, X-Linked
|2 MeSH
650 _ 2 |a Genetic Diseases, X-Linked: genetics
|2 MeSH
650 _ 2 |a Genetic Predisposition to Disease
|2 MeSH
650 _ 2 |a Genetic Testing: methods
|2 MeSH
650 _ 2 |a Humans
|2 MeSH
650 _ 2 |a Membrane Proteins: genetics
|2 MeSH
650 _ 2 |a Mental Retardation, X-Linked: genetics
|2 MeSH
650 _ 2 |a Mice
|2 MeSH
650 _ 2 |a Molecular Sequence Annotation
|2 MeSH
650 _ 2 |a Molecular Sequence Data
|2 MeSH
650 _ 2 |a Phenotype
|2 MeSH
650 _ 2 |a Proto-Oncogene Proteins: genetics
|2 MeSH
650 _ 2 |a Repressor Proteins: genetics
|2 MeSH
650 _ 2 |a X Chromosome: genetics
|2 MeSH
700 1 _ |a Vollmer, Marion
|0 P:(DE-HGF)0
|b 1
700 1 _ |a Tamplin, Owen
|0 P:(DE-HGF)0
|b 2
700 1 _ |a Lu, Mei
|0 P:(DE-HGF)0
|b 3
700 1 _ |a Biechele, Steffen
|0 P:(DE-HGF)0
|b 4
700 1 _ |a Gertsenstein, Marina
|0 P:(DE-HGF)0
|b 5
700 1 _ |a van Campenhout, Claude
|0 P:(DE-HGF)0
|b 6
700 1 _ |a Floss, Thomas
|0 P:(DE-HGF)0
|b 7
700 1 _ |a Kühn, Ralf
|0 P:(DE-HGF)0
|b 8
700 1 _ |a Wurst, Wolfgang
|0 P:(DE-2719)2000028
|b 9
|u dzne
700 1 _ |a Lickert, Heiko
|0 P:(DE-HGF)0
|b 10
|e Corresponding author
700 1 _ |a Rossant, Janet
|0 P:(DE-HGF)0
|b 11
773 1 8 |a 10.1101/gr.105106.110
|b : Cold Spring Harbor Laboratory, 2010-06-14
|n 8
|p 1154-1164
|3 journal-article
|2 Crossref
|t Genome Research
|v 20
|y 2010
|x 1088-9051
773 _ _ |a 10.1101/gr.105106.110
|g Vol. 20, no. 8, p. 1154 - 1164
|0 PERI:(DE-600)1483456-X
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|q 20:8<1154 - 1164
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|t Genome research
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|x 1088-9051
856 7 _ |2 Pubmed Central
|u http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2909578
909 C O |o oai:pub.dzne.de:136084
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910 1 _ |a Deutsches Zentrum für Neurodegenerative Erkrankungen
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914 1 _ |y 2010
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