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

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


  • Merscher S
  • Funke B
  • Epstein JA
  • Heyer J
  • Puech A
  • Lu MM
  • Xavier RJ
  • Demay MB
  • Russell RG
  • Factor S
  • Tokooya K
  • Jore BS
  • Lopez M
  • Pandita RK
  • Lia M
  • Carrion D
  • Xu H
  • Schorle H
  • Kobler JB
  • Scambler P
  • Wynshaw-Boris A
  • Skoultchi AI
  • Morrow BE
  • Kucherlapati R



Publication Data

February 23, 2001

Associated Grants

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

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