| Literature DB >> 11239417 |
S Merscher1, B Funke, J A Epstein, J Heyer, A Puech, M M Lu, R J Xavier, M B Demay, R G Russell, S Factor, K Tokooya, B S Jore, M Lopez, R K Pandita, M Lia, D Carrion, H Xu, H Schorle, J B Kobler, P Scambler, A Wynshaw-Boris, A I Skoultchi, B E Morrow, R Kucherlapati.
Abstract
Velo-cardio-facial syndrome (VCFS)/DiGeorge syndrome (DGS) is a human disorder characterized by a number of phenotypic features including cardiovascular defects. Most VCFS/DGS patients are hemizygous for a 1.5-3.0 Mb region of 22q11. To investigate the etiology of this disorder, we used a cre-loxP strategy to generate mice that are hemizygous for a 1.5 Mb deletion corresponding to that on 22q11. These mice exhibit significant perinatal lethality and have conotruncal and parathyroid defects. The conotruncal defects can be partially rescued by a human BAC containing the TBX1 gene. Mice heterozygous for a null mutation in Tbx1 develop conotruncal defects. These results together with the expression patterns of Tbx1 suggest a major role for this gene in the molecular etiology of VCFS/DGS.Entities:
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Year: 2001 PMID： 11239417 DOI： 10.1016/s0092-8674(01)00247-1
Source DB: PubMed Journal: Cell ISSN： 0092-8674 Impact factor: 41.582