Summary |
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Mutation origin |
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Mutation description |
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Phenotypes |
View phenotypes and curated references for all genotypes (concatenated display).
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Disease models |
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Expression |
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Find Mice (IMSR) |
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Notes |
Summative Diagnosis:
Mutant Type 1: Cardiovascular phenotype: Complex congenital heart defects associated with heterotaxy, such as transposition of the great arteries (TGA), double outlet right ventricle (DORV), atrioventricular septal defect (AVSD), right atrial isomerism with duplicated inferior vena cava (IVC), inverted hemiazygous venous connection with left sided hepatic vein connecting to the left side atrium, perimembranous ventricular septal defect (VSD), and inverted liver. Noncardiac phenotype: situs inversus, right pulmonary isomerism, hemizygous venous connection Mutant Type 2: Cardiovascular phenotype: Double outlet right ventricle (DORV)/overriding aorta (Ao), hypoplastic aortic arch, subaortic ventricular septal defect (VSD), and muscular ventricular septal defect (mVSD) |