Nomenclature |
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Mutation origin |
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Mutation description |
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Phenotypes |
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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 Phenotype 1: Cardiovascular defects: Pulmonary atresia with ventricular septal defect (VSD), atrioventricular septal defect (AVSD), major aortopulmonary collateral arteries (MAPCA), coronary fistula, dual inferior vena cavae (IVC) and single lung lobe. Non-cardiovascular defects: Micrognathia, hypotelorism, duplex kidney, polydactyly/syndactyly/oligodactyly, and tracheoesphageal fistula (TEF). Mutant Phenotype 2: Kidney agenesis, craniofacial anomalies. |