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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID
Ccm2
cerebral cavernous malformation 2
MGI:2384924
14 phenotypes from multigenic genotypes
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Allelic Composition
Genetic Background
Annotated Term Reference
\Ccm2Gt(RRG051)Byg/\Ccm2+
\Heg1tm1Mlkn/\Heg1+
involves: 129/Sv * 129P2/OlaHsd * C57BL/6
abnormal cardinal vein morphology J:146528
abnormal dorsal aorta morphology J:146528
abnormal vascular endothelial cell development J:146528
abnormal vasculogenesis J:146528
dilated aortic sac J:146528
embryonic growth retardation J:146528
embryonic lethality during organogenesis, complete penetrance J:146528
hemopericardium J:146528
pericardial edema J:146528
\Ccm2Gt(RRG051)Byg/\Ccm2+
\Heg1tm1Mlkn/\Heg1tm1Mlkn
involves: 129 * 129P2/OlaHsd * C57BL/6
abnormal pharyngeal arch artery morphology J:187714
embryonic lethality during organogenesis, complete penetrance J:187714
\Ccm2tm1Mlkn/\Ccm2tm1Mlkn
\Map3k3tm1.1Mlkn/\Map3k3+
\Tg(Cdh5-cre/ERT2)1Rha/0
involves: 129 * C57BL/6NTac
normal nervous system phenotype J:232707, J:250906
\Ccm2ltm1Mlkn/\Ccm2ltm1Mlkn
\Ccm2Gt(RRG051)Byg/\Ccm2+
involves: 129 * 129P2/OlaHsd * C57BL/6
no abnormal phenotype detected J:187714
\Ccm2ltm1Mlkn/\Ccm2ltm1Mlkn
\Ccm2Gt(RRG051)Byg/\Ccm2+
\Heg1tm1Mlkn/\Heg1tm1Mlkn
involves: 129 * 129P2/OlaHsd * C57BL/6
abnormal cardiovascular development J:187714
prenatal lethality, incomplete penetrance J:187714
\Ccm2ltm1Mlkn/\Ccm2ltm1Mlkn
\Ccm2tm1Mlkn/\Ccm2+
\Heg1tm1Mlkn/\Heg1tm2.1Mlkn
\Tg(Tek-cre)1Ywa/0
involves: 129 * C57BL/6 * SJL
prenatal lethality, incomplete penetrance J:187714

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/25/2025
MGI 6.24
The Jackson Laboratory