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 |
General Notes (Mutant 2):
Summative Diagnosis:
Cardiovascular phenotypes: Atrioventricular septal defect (AVSD), left ventricular hypertrophy, right sided aortic arch, vascular ring and other aortic arch anomalies Noncardiovascular phenotype: Craniofacial defects including micrognathia, midline facial cleft, bilateral anopthalmia, low set ears, hypoplastic thymus, renal anomalies including duplex kidneys and hydroureter Phenotypic Similarity to Human Syndrome: DiGeorge syndrome |
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References |
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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 11/12/2024 MGI 6.24 |
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