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: Cardiac Phenotype: Double outlet right ventricle (DORV), membranous and muscular ventricular septal defects (VSD) Noncardiac Phenotype: Duplex kidney, kidney cysts, hydronephrosis, hydroureter, microphthalmia and other eye defects, facial cleft and cleft palate, polydactyly. Mutant Type 2: Cardiac Phenotype: Biventricular hypertrophy Noncardiac Phenotype: Anophthalmia, cleft palate |