Table 2.
The Tbx1Fgf8 allele does not per se cause aortic arch defects
| Genotype | Normal | Abnormal |
|---|---|---|
| Tbx1+/+ | 31 | 0 |
| Dp1/+ | 15 | 0 |
| Tbx1Fgf8/+ | 11 | 9 (45%) |
| Dp1/Tbx1Fgf8/+ | 18 | 0 |
Normal aortic arch patterning is restored in the presence of the Dp1 allele carrying two functional copies of Tbx1, suggesting that the phenotype of Tbx1Fgf8/+ mutants is attributable to an aggravating effect of excess Fgf8 in the context of Tbx1 haploinsufficiency.