Analysis Tools
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• while present at E11.5, mice die by E13.5
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• at E12.5
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• disorganized at E12.5
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• at E11.5, hearts show deficient second heart field (SHF) contribution to the developing muscular interventricular septum between the right (RV) and left ventricle (LV)
• at E12.5 and E15.5, the interventricular septum has a major deficiency of SHF-derived cells, leading to formation of a bifid cardiac apex
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• E12.5 right ventricle (RV) explant cultures exhibit only non-SHF-derived (mT-labeled) cells migrating from the RV explant by day 6 and very few to no SHF-derived (mG-labeled) cell migration
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• from E12.5 to E13.5
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• atrial arrhythmia
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• in most mice from E12.5 to E13.5
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• no embryonic lethality
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| N |
• no heart defects or external phenotype
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• in the right ventricle and out flow tract
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• thickening of the myocardium
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• thickening of the myocardium
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• in the right ventricle and out flow tract
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• mice exhibit normal outflow tracts
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• at E18.5, 4 of 16 mice exhibit abnormal arch-artery patterning compared with wild-type mice
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• in 14 of 16 mice
• however, mice exhibit normal outflow tract length with no increase in apoptosis
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• in E12 embryos
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• in newborns, owing to blood pooling
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• in E12 embryos
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• shorter in E10 embryos
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• newborn hearts have only single ventricle
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• in newborns, owing to blood pooling
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• in E12 embryos
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• in newborns, owing to blood pooling
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• in E12 embryos
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• shorter in E10 embryos
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• newborn hearts have only single ventricle
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• in newborns, owing to blood pooling
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• in E12 embryos
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• in newborns, owing to blood pooling
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• in E12 embryos
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• shorter in E10 embryos
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• newborn hearts have only single ventricle
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• in newborns, owing to blood pooling
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• seven of 28 mice collected at P0 at dead
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• at P0, the right ventricle (RV) myocardium shows an absence of long F-actin filaments
• at E13.5, active (non-phosphorylated) beta-catenin staining between cell junctions is decreased in the RV myocardium
• at E13.5, mRNA levels of several transcription factors involved in heart development (Gata4, Nkx2.5, Tbx5 and Hand2) are significantly decreased in the RV myocardium
• however, Tbx20 mRNA levels are normal in the RV at E13.5
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• at P0, the right ventricle (RV) myocardium shows poor trabeculation
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• at P0, the RV compact myocardium is significantly thinner than in control hearts
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• at P0, RV cardiomyocytes appear rounded (spherically shaped) and exhibit defective polarity with loss of long F-actin filaments; active beta-catenin staining at cell-cell junctions is decreased at E13.5, suggesting reduced cell adhesion
• at E12.5 and E15.5, expression of SCRIB (scribble planar cell polarity protein) is almost absent in the RV and interventricular septum junction, supporting a failure of cardiomyocytes to undergo polarization
• in culture, neonatal cardiomyocytes show disrupted actin organization, absence of distinct cell projections, and a significantly shorter long-axis length; >40% of cardiomyocytes are rounded, whereas control cardiomyocytes are elongated
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• at P0, all hearts (28 of 28) exhibit a deep interventricular groove and a bifurcation between the right (RV) and the left ventricle (LV), indicating a bifid cardiac apex
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• at P0, 82% (23 of 28) of hearts show atrial septal defects
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• formation of the interventricular septum is impaired: a deep fissure between the RV and LV is first seen at E11.5 and persists as a deep cleft separating the ventricles by E15.5
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• at P0, all hearts (28 of 28) exhibit ventricular septal defects
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• at E13.5, transcriptional regulation of RV development is severely disrupted
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• at P0, all hearts (28 of 28) exhibit a deep interventricular groove
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• at E13.5, the RV of the heart shows decreased active (non-phosphorylated) beta-catenin staining between cell junctions
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• at E11.5, cleaved caspase-3 staining shows significantly higher levels of apoptosis in the RV and the interventricular septum, but not in the LV, of the heart
• however, no differences in cell proliferation are detected in E11.5 heart sections
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• at P0, the right ventricle (RV) myocardium shows an absence of long F-actin filaments
• at E13.5, active (non-phosphorylated) beta-catenin staining between cell junctions is decreased in the RV myocardium
• at E13.5, mRNA levels of several transcription factors involved in heart development (Gata4, Nkx2.5, Tbx5 and Hand2) are significantly decreased in the RV myocardium
• however, Tbx20 mRNA levels are normal in the RV at E13.5
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• at P0, the right ventricle (RV) myocardium shows poor trabeculation
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• at P0, the RV compact myocardium is significantly thinner than in control hearts
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• no embryos are found after E12.5
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• dramatic reduction in the amount of sarcomeric myosin
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• defect in outflow tract remodeling at E12.5 due to a deficiency in proximal outflow tract mesenchyme
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• at E14.5 and E18.5, a deficiency in the separation of the proximal outflow tract is seen
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• at E14.5 and E18.5, the alignment of the aorta and pulmonary trunk is abnormal
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• proximal outflow tract mesenchyme deficiency is more severe than in mutant mice wild-type for Mir17-92
• failure of fusion between proximal mesenchyme and outflow tract septum
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• at E14.5 and E18.5, a deficiency in the separation of the proximal outflow tract is seen
• deficiency is more severe than in mutant mice wild-type for Mir17-92
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• elongated outflow tract
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• right ventricle size appears reduced at E14.5 and at P60
• however, mice exhibit a normal left ventricle chamber
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| NOT | hypoplastic left heart syndrome | DOID:9955 |
OMIM:241550 OMIM:614435 |
J:311466 |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 25% of mutants have TGA and double outlet right ventricle
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• 25% of mutants have TGA and double outlet right ventricle
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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 09/30/2025 MGI 6.24 |
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