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:
Cardiovascular phenotypes: Overriding aorta and perimembranous ventricular septal defect (pmVSD), ventricular hypertrophy Noncardiovascular phenotype: Craniofacial defects including short snout, micrognathia, agnathia, anopthalmia, low set ears, and cleft palate, multiplex kidneys |