Human Disease and Mouse Model Detail

Human Disease

Term: Cleidocranial Dysplasia; CCD
OMIM ID: 119600

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...

Runx2

RUNX2

...both mouse and human orthologous genes.

Ccd

none identified

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

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.¹
Runx2^tm1Jals/Runx2^tm1Jals		involves: 129S7/SvEvBrd * C57BL/6	J:143532
Runx2^tm1Kish/Runx2⁺		involves: 129P2/OlaHsd * C57BL/6	J:40783
Runx2^tm1Kish/Runx2^tm1Kish		involves: 129P2/OlaHsd * C57BL/6	J:40783, J:53069, J:54095
Runx2^tm1Mjo/Runx2⁺		involves: 129S1/Sv * 129X1/SvJ * C57BL/6	J:40784, J:53868
Models with phenotypic similarity to human disease where etiologies are distinct.²
Ccd/Ccd⁺		involves: 101 * C3H	J:14006
Ccd/Ccd⁺		B10Rl.101-Ccd	J:16170

¹Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
²Human 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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