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Human Disease and Mouse Model Detail
Human Disease Muscular Dystrophy-Dystroglycanopathy (congenital with Brain and Eye Anomalies), Type A, 1; MDDGA1
OMIM ID: 236670
Synonyms Cerebroocular Dysplasia-Muscular Dystrophy Syndrome; COD-MD Syndrome; HARD Syndrome; Hydrocephalus, Agyria, and Retinal Dysplasia; Muscular Dystrophy-Dystroglycanopathy, Type A; Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, Pomt1-Related
View all models View ALL (1) mouse models for this human disease.
Genes and
mouse models
Mutations in human and/or mouse homologs are associated with this disease

      *Disease is associated/modeled with this Gene or a homolog. More...
      Human Homologs Mouse Homologs Mouse Models Homology Source
     COL4A1 Col4a1* View 1 model HomoloGene and HGNC
     FKRP* Fkrp   HomoloGene
FKTN* Fktn   HomoloGene
LARGE* Large   HomoloGene and HGNC
POMT1* Pomt1   HomoloGene and HGNC
POMT2* Pomt2   HomoloGene and HGNC
References Disease References using Mouse Models (1)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.04
The Jackson Laboratory