Gain of function of Tbx1 affects pharyngeal and heart development in the mouse

Francesca Vitelli, Tuong Huynh, Antonio Baldini

Research output: Contribution to journalArticlepeer-review


Mammalian development is highly sensitive to Tbx1 gene dosage reduction. Gene function insights can also be learned from increased or ectopic expression. The authors generated a novel mouse transgenic line, named COET, which expresses Tbx1 upon Cremediated recombination. The authors crossed thi transgenic line with Tbx1Cre animals to activate expression in the Tbx1-expression domain. Compound mutant COET;Tbx1Cre/+ animals died after birth and showed heart enlargement. At E18.5, compound mutants showed ventricular septal defects and thymic abnormalities. The authors crossed compound mutants into a Tbx1 null background to understand whether this phenotype is caused by gene overdosage. Results showed that gene dosage reduction at the endogenous locus could not rescue heart and thymic defects, although the transgene rescued the loss of function phenotype. Thus, the transgenic phenotype appears to be due to gain of function. Resultant data demonstrate that Tbx1 expression must be tightly regulated to be compatible with normal embryonic development.

Original languageEnglish
Pages (from-to)188-195
Number of pages8
Issue number3
Publication statusPublished - 2009


  • Cardiovascular defects
  • Conditional expression
  • Fgf8
  • Overexpression
  • Pharyngeal apparatus
  • Tbx1

ASJC Scopus subject areas

  • Endocrinology
  • Cell Biology
  • Genetics
  • Medicine(all)


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