Human Disease and Mouse Model Detail

Human Disease

Term: Cerebral Cavernous Malformations; CCM
OMIM ID: 116860

Synonyms

Cavernous Angioma, Familial; Cavernous Angiomatous Malformations; CAM

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
Krit1	KRIT1

...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 diseases where etiology is unknown or involving genes where ortholog is unknown.¹
Ccm2^{Gt(RRG051)Byg}/Ccm2⁺		involves: 129P2/OlaHsd * C57BL/6J	J:105314
Krit1^tm1Arte/Krit1^tm1Arte Tg(Cdh5-cre/ERT2)1Rha/0	2	involves: C57BL/6	J:177584
Krit1^tm1Dmar/Krit1^tm1Dmar		B6.129-Krit1^tm1Dmar	J:88138

¹The causal human genes for this disease have not been identified. Genotypes may include cases where the mouse structural gene or the human ortholog has not been identified.
²Conditionally 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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