The oligogenic inheritance test GCOD detects risk genes and their interactions in congenital heart defects

Table 3.

Histological analysis of cardiac development in Gata6 and Por mutant mice

WT Gata6−/+ Por−/+ Gata6−/+Por−/+
E18.5
 Samples no. 2 4 2 5
 ASD only 0 0 0 1 (20%)
 ASD+VSD 0 0 0 1 (20%)
 Normal 2 (100%) 4 (100%) 2 (100%) 3 (60%)
P0
 Samples no. 4 7 7 12
 ASD only 0 0 0 7 (58%)
 ASD+VSD 0 0 0 0
 Normal 4 (100%) 7 (100%) 7 (100%) 5 (42%)
Total (% normal) 6 (100%) 11 (100%) 9 (100%) 17 (47%)
  • Although 100% of wild-type, Gata6−/+, and Por−/+ mice developed normal hearts, compound heterozygous Gata6−/+ Por−/+ mice exhibited CHDs, including atrial-septal defects (ASDs) alone or in addition to ventricular-septal defects (VSDs). At embryonic day 18.5 (E18.5), two out of five embryos displayed ASD or both ASD and VSD. At postnatal day 0 (P0), seven out of 12 pups presented with ASD.

This Article

  1. Genome Res. 36: 330-347

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