Human Disease and Mouse Model Detail

Human Disease

Term: Osteogenesis Imperfecta, Type I
OMIM ID: 166200

Synonyms

Oi, Type I; OI1; Osteogenesis Imperfecta Tarda

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

...both mouse and human orthologous genes.

Transgenes and
other mutation types

Tg(COL1A1)73Prc

Characteristics of this human disease are associated with transgenes and other mutation types in mouse.

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.¹
Col1a1^Mov13/Col1a1⁺		involves: C57BL/6	J:107045
Col1a1^tm1.1Jcm/Col1a1⁺		either: (involves: 129X1/SvJ * C3H/HeJ) or (involves: 129X1/SvJ * CD-1)	J:59168
Models involving transgenes or other mutation types.²
Tg(COL1A1)73Prc/0		involves: FVB/N	J:146429

¹Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
²Models involving transgenes or other mutation types may also appear in other sections of the table.

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