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Phenotypes Associated with This Genotype
involves: 129S4/SvJae * C57BL/6J
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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
DO ID OMIM ID(s) Ref(s)
atrial heart septal defect 1 DOID:0110106 OMIM:108800

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
MGI 6.14
The Jackson Laboratory