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@ARTICLE{Cox:136084,
author = {Cox, Brian J and Vollmer, Marion and Tamplin, Owen and Lu,
Mei and Biechele, Steffen and Gertsenstein, Marina and van
Campenhout, Claude and Floss, Thomas and Kühn, Ralf and
Wurst, Wolfgang and Lickert, Heiko and Rossant, Janet},
title = {{P}henotypic annotation of the mouse {X} chromosome.},
journal = {Genome research},
volume = {20},
number = {8},
issn = {1088-9051},
address = {Cold Spring Harbor, NY},
publisher = {Laboratory Press},
reportid = {DZNE-2020-02406},
pages = {1154-1164},
year = {2010},
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 = {Acyltransferases / Animals / Base Sequence / Chromosomes,
Human, X: genetics / DNA Mutational Analysis: methods /
Genes, Lethal / Genes, X-Linked / Genetic Diseases,
X-Linked: genetics / Genetic Predisposition to Disease /
Genetic Testing: methods / Humans / Membrane Proteins:
genetics / Mental Retardation, X-Linked: genetics / Mice /
Molecular Sequence Annotation / Molecular Sequence Data /
Phenotype / Proto-Oncogene Proteins: genetics / Repressor
Proteins: genetics / X Chromosome: genetics / BCOR protein,
human (NLM Chemicals) / Membrane Proteins (NLM Chemicals) /
Proto-Oncogene Proteins (NLM Chemicals) / Repressor Proteins
(NLM Chemicals) / Acyltransferases (NLM Chemicals) / PORCN
protein, human (NLM Chemicals)},
cin = {AG Wurst},
ddc = {540},
cid = {I:(DE-2719)1140001},
pnm = {342 - Disease Mechanisms and Model Systems (POF3-342)},
pid = {G:(DE-HGF)POF3-342},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:20548051},
pmc = {pmc:PMC2909578},
doi = {10.1101/gr.105106.110},
url = {https://pub.dzne.de/record/136084},
}