TY  - JOUR
A1  - Cox, Brian J.
A1  - Vollmer, Marion
A1  - Tamplin, Owen
A1  - Lu, Mei
A1  - Biechele, Steffen
A1  - Floss, Thomas
A1  - Gertsenstein, Marina
A1  - van Campenhout, Claude
A1  - Kühn, Ralf
A1  - Wurst, Wolfgang
A1  - Lickert, Heiko
A1  - Rossant, Janet
T1  - Phenotypic annotation of the mouse X chromosome
Y1  - 2010/06/14 
JF  - Genome Research 
JO  - Genome Research 
DO  - 10.1101/gr.105106.110 
SP  - gr.105106.110 
UR  - http://genome.cshlp.org/content/early/2010/06/11/gr.105106.110.abstract 
N2  - Mutational screens are an effective means in the functional annotation of the 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 ES cells 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 null mutations can not be responsible for all cases of XLMR. 
ER  -