| Human Disease |
Muscular Dystrophy-Dystroglycanopathy (congenital with Brain and Eye Anomalies), Type A, 1; MDDGA1 OMIM ID: 236670 |
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| Synonyms | Cerebroocular Dysplasia-Muscular Dystrophy Syndrome; COD-MD Syndrome; HARD Syndrome; Hydrocephalus, Agyria, and Retinal Dysplasia; Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, Pomt1-Related | ||||||||||||||||||||||||||||||||||||||||||||
| View all models | View ALL (1) mouse models for this human disease. | ||||||||||||||||||||||||||||||||||||||||||||
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Genes and mouse models |
Mutations in human and/or mouse homologs are associated with this disease
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| Allelic Composition | Genetic Background | Reference | Phenotypes |
| Col4a1deltaex40/Col4a1+ |
involves: 129S/SvEv * C57BL/6J | J:172720 | View |
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc |
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last database update 05/08/2013 MGI 5.13 |
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