Journal
CELL
Volume 104, Issue 4, Pages 619-629Publisher
CELL PRESS
DOI: 10.1016/S0092-8674(01)00247-1
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Funding
- NHLBI NIH HHS [HL61475, HL 62974] Funding Source: Medline
- NICHD NIH HHS [HD34980] Funding Source: Medline
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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.
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