Human Disease and Mouse Model Detail

Human Disease

Term: Cerebral Cavernous Malformations 2; CCM2
OMIM ID: 603284

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...

Ccm2

CCM2

...both mouse and human orthologous genes.

Mouse Models

Genotype				Ref(s)
Allelic Composition		Note	Genetic Background	Ref(s)
Models with phenotypic similarity to human disease where etiologies involve orthologs.¹
Ccm2^tm1.1Etl/Ccm2^tm1Etl Tg(Cdh5-cre/ERT2)1Rha/0		3	involves: 129 * C57BL/6	J:177584
Ccm2^tm2.1Sbn/Ccm2^tm2.1Sbn Tg(Mx1-cre)1Cgn/0		3	involves: C57BL/6 * CBA	J:174085
No similarity to the expected human disease phenotype was found.²
NOT	Ccm2^tm1Etl/Ccm2^tm1Etl Tg(Nes-cre)1Kln/?	3	B6.Cg-Ccm2^tm1Etl Tg(Nes-cre)1Kln	J:146210
NOT	Ccm2^tm2.1Sbn/Ccm2^tm2.1Sbn Tg(Tek-cre)1Ywa/0	3	involves: C57BL/6 * SJL	J:174085

¹Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
²One or more human genes are associated with this human disease. The mouse genotype may involve mutations to orthologs of one or more of those genes, but the phenotype did not resemble the disease.
³Conditionally targeted allele(s)

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