| First Author | Merscher S | Year | 2001 |
| Journal | Cell | Volume | 104 |
| Issue | 4 | Pages | 619-29 |
| PubMed ID | 11239417 | Mgi Jnum | J:67796 |
| Mgi Id | MGI:1931408 | Doi | 10.1016/s0092-8674(01)00247-1 |
| Citation | Merscher S, et al. (2001) TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome. Cell 104(4):619-29 |
| abstractText | 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. |
