Human Disease and Mouse Model Detail

Human Disease

Term: 3-methylglutaconic Aciduria, Type III; MGCA3
OMIM ID: 258501

Synonyms

Costeff Syndrome; Iraqi-Jewish 'optic Atrophy Plus'; Mga, Type III; MGA3; Opa3, Autosomal Recessive; Optic Atrophy 3, Autosomal Recessive; Optic Atrophy, Infantile, with Chorea and Spastic Paraplegia; Optic Atrophy Plus Syndrome

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...

Opa3

OPA3

...both mouse and human orthologous genes.

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.¹
Opa3^m1Votr/Opa3^m1Votr		involves: C3H * C57BL/6JCrl	J:181670, J:188346

¹Human genes are associated with this disease. Mouse model genotypes 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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