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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Expression |
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Find Mice (IMSR) |
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Notes |
Summative Diagnosis:
Mutant Type 1: Cardiovascular phenotypes: Congenital heart disease associated with with heterotaxy, including dextrocardia, double outlet right ventricle (DORV), Taussig-Bing type DORV, muscular VSD (mVSD), atrioventricular septal defects (AVSD), and coronary fistula Noncardiovascular phenotype: Dextrogastria, right lung isomerism, omphalocele, gastroschisis Mutant Type 2: Cardiovascular phenotypes: Heterotaxy with complex congenital heart disease such as transposition of the great arteries (TGA;{SDD}) and dextrocardia with double outlet right ventricle (DORV;{ILL}). Noncardiovascular phenotype: anophthalmia, short snout, micrognathia, cleft palate Phenotypic Similarity to Human Syndrome: Mutant Type 1: Heterotaxy Mutant Type 2: Carpenter's syndrome |