Human Disease and Mouse Model Detail

Human Disease

Term: Osteogenesis Imperfecta, Type III
OMIM ID: 259420

Synonyms

Oi3; OI, Type III; Osteogenesis Imperfecta, Progressively Deforming, with Normal Sclerae

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...

Col1a1	COL1A1
Col1a2	COL1A2

...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
Col1a1^Aga2/Col1a1⁺		C3HeB/FeJ-Col1a1^Aga2	J:185988
Col1a2^oim/Col1a2^oim		involves: C3H/HeJ * C57BL/6JLe	J:4348
Col1a2^oim/Col1a2^oim		B6C3Fe a/a-Col1a2^oim/J	J:38013

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
Citing These Resources Funding Information Warranty Disclaimer & Copyright Notice Send questions and comments to User Support.	last database update 04/03/2013 MGI 5.12