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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Find Mice (IMSR) |
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Notes |
Summative Diagnosis:
Different mutations causing two independently segregating phenotypes: Mutant 1: Cardiovascular defects: Right aortic arch (RAA), hypoplastic ascending aorta and brachiocephalic arteries. Non-cardiac defects: Noncardiac defects: Craniofacial defects - proboscis, micrognathia, no oral cavity opening (no mouth), holosproencephaly Mutant 2 (Lox gene mutation): Cardiovascular defects: Supravalvular aortic stenosis (narrowed ascending aorta), Thickened great artery walls, Biventricular hypertrophy, and Pulmonary artery branch stenosis. Non-cardiac defects: diaphragmatic hernia |