Mouse Genome Informatics
involves: 129S4/SvJae * C57BL/6J
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• at E14.5, some mutant mice show dysplastic mitral valves (3/27)
• 20% of adult mutant mice (5/25) show persistent ASD, where the septum primum failed to fuse completely with the cushion tissue and the ostium primum remained
• septum secundum formation was normal, but the postnatal fusion of the two septa was precluded by the defective septum primum; consequently, blood cells were trapped between the atria and the hemodynamic flow was in disarray
• the foramen ovale remained patent in affected adult mice
• at E14.5, some mutant mice show complete AVSD (4/27)
• while a VSD in mutant hearts was apparent at E13.5 and E14.5, it is not seen after E15.5, indicating that interventricular septum formation is delayed in mutant embryos but not persistently impaired
• at E14.5, some mutant mice show VSD (11/27), but this is no longer apparent at E15.5

Mouse Models of Human Disease
Atrial Septal Defect 1; ASD1 108800 J:126490