Journal Article

DZNE-2020-02406

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Phenotypic annotation of the mouse X chromosome.

Cox, B. J. ; Vollmer, M. ; Tamplin, O. ; Lu, M. ; Biechele, S. ; Gertsenstein, M. ; van Campenhout, C. ; Floss, T. ; Kühn, R. ; Wurst, W.DZNE* ; Lickert, H. (Corresponding author) ; Rossant, J.

2010
Laboratory Press Cold Spring Harbor, NY

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Please use a persistent id in citations: doi:10.1101/gr.105106.110

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/).

Keyword(s): Acyltransferases (MeSH) ; Animals (MeSH) ; Base Sequence (MeSH) ; Chromosomes, Human, X: genetics (MeSH) ; DNA Mutational Analysis: methods (MeSH) ; Genes, Lethal (MeSH) ; Genes, X-Linked (MeSH) ; Genetic Diseases, X-Linked: genetics (MeSH) ; Genetic Predisposition to Disease (MeSH) ; Genetic Testing: methods (MeSH) ; Humans (MeSH) ; Membrane Proteins: genetics (MeSH) ; Mental Retardation, X-Linked: genetics (MeSH) ; Mice (MeSH) ; Molecular Sequence Annotation (MeSH) ; Molecular Sequence Data (MeSH) ; Phenotype (MeSH) ; Proto-Oncogene Proteins: genetics (MeSH) ; Repressor Proteins: genetics (MeSH) ; X Chromosome: genetics (MeSH) ; BCOR protein, human ; Membrane Proteins ; Proto-Oncogene Proteins ; Repressor Proteins ; Acyltransferases ; PORCN protein, human

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Contributing Institute(s):

1. Genome Engineering (AG Wurst)

Research Program(s):

1. 342 - Disease Mechanisms and Model Systems (POF3-342) (POF3-342)

Appears in the scientific report 2010

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Database coverage:
; BIOSIS Previews ; Clarivate Analytics Master Journal List ; Current Contents - Life Sciences ; Ebsco Academic Search ; IF >= 10 ; JCR ; NCBI Molecular Biology Database ; PubMed Central ; SCOPUS ; Science Citation Index ; Science Citation Index Expanded ; Web of Science Core Collection

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