Human Disease and Mouse Model Detail

Human Disease

Term: 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; Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, Pomt1-Related

Associated Genes

Orthologous mouse and human markers where mutations in one or both species have been associated with phenotypes characteristic of this disease.

Mouse Gene

Human Gene

Characteristics of this human disease are associated with mutations in...

Col4a1

COL4A1

...the mouse gene.
OMIM data currently do not associate this disease with the orthologous human gene.

Fkrp	FKRP
Fktn	FKTN
Large	LARGE
Pomt1	POMT1
Pomt2	POMT2

...the human gene.
MGI data currently do not associate this disease with mutations in the orthologous mouse gene.

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background
Models with phenotypic similarity to human disease where etiologies are distinct.¹
Col4a1^deltaex40/Col4a1⁺		involves: 129S/SvEv * C57BL/6J	J:172720

¹Human genes are associated with this disease. Mouse model genotypes do not include mutations in the orthologs of these human genes.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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