Document Detail

Phenotypic annotation of the mouse X chromosome.
MedLine Citation:
PMID:  20548051     Owner:  NLM     Status:  MEDLINE    
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 (
Brian J Cox; Marion Vollmer; Owen Tamplin; Mei Lu; Steffen Biechele; Marina Gertsenstein; Claude van Campenhout; Thomas Floss; Ralf Kühn; Wolfgang Wurst; Heiko Lickert; Janet Rossant
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2010-06-14
Journal Detail:
Title:  Genome research     Volume:  20     ISSN:  1549-5469     ISO Abbreviation:  Genome Res.     Publication Date:  2010 Aug 
Date Detail:
Created Date:  2010-08-03     Completed Date:  2010-11-23     Revised Date:  2011-07-22    
Medline Journal Info:
Nlm Unique ID:  9518021     Medline TA:  Genome Res     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1154-64     Citation Subset:  IM    
Program in Developmental and Stem Cell Biology, The Hospital for Sick Children Research Institute, Toronto, Ontario M5G 1L7, Canada.
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MeSH Terms
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*
Membrane Proteins / genetics
Mental Retardation, X-Linked / genetics
Molecular Sequence Annotation
Molecular Sequence Data
Proto-Oncogene Proteins / genetics
Repressor Proteins / genetics
X Chromosome / genetics*
Reg. No./Substance:
0/BCOR protein, human; 0/Membrane Proteins; 0/PORCN protein, human; 0/Proto-Oncogene Proteins; 0/Repressor Proteins

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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