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TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome.

Cell | Feb 23, 2001

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.

Pubmed ID: 11239417 RIS Download

Mesh terms: Animals | Cardiovascular Abnormalities | Chromosomes, Human, Pair 22 | DiGeorge Syndrome | Flow Cytometry | Gene Library | Gene Targeting | Genotype | Humans | Mice | Mice, Transgenic | Microscopy, Fluorescence | Models, Genetic | Mutation | Parathyroid Glands | Phenotype | T-Box Domain Proteins | Thymus Gland | Time Factors

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Associated grants

  • Agency: NICHD NIH HHS, Id: HD34980
  • Agency: NHLBI NIH HHS, Id: HL 62974
  • Agency: NHLBI NIH HHS, Id: HL61475

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