Dissecting the genetic complexity of human 6p deletion syndromes by using a region-specific, phenotype-driven mouse screen.

doi:10.1073/pnas.0500584102

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Article

Dissecting the genetic complexity of human 6p deletion syndromes by using a region-specific, phenotype-driven mouse screen.

Proceedings of the National Academy of Sciences of the United States of America - 30 Aug 2005

Bogani Debora, Willoughby Catherine, Davies Jennifer, Kaur Kulvinder, Mirza Ghazala, Paudyal Anju, Haines Heather, McKeone Richard, Cadman Matthew, Pieles Guido, Schneider Jürgen E, Bhattacharya Shoumo, Hardy Andrea, Nolan Patrick M, Tripodis Nikos, Depew Michael J, Chandrasekara Ramya, Duncan Gimara, Sharpe Paul T, Greenfield Andy, Denny Paul, Brown Steve D M, Ragoussis Jiannis, Arkell Ruth M

Abstract excerpt

Monosomy of the human chromosome 6p terminal region results in a variety of congenital malformations that include brain, craniofacial, and organogenesis abnormalities. To examine the genetic basis of these phenotypes, we have carried out an unbiased functional analysis of the syntenic region of the mouse genome (proximal Mmu13). A genetic screen for recessive mutations in this region recovered thirteen lines with...

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PMID: 16109771
DOI: 10.1073/pnas.0500584102
PMCID: PMC1194901

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