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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID 		Ccm2
cerebral cavernous malformation 2
MGI:2384924
72 phenotypes from 8 alleles in 12 genetic backgrounds
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Allelic Composition
Genetic Background		 Annotated Term Reference
Ccm2Gt(RRG051)Byg/Ccm2+
involves: 129P2/OlaHsd 		abnormal cell physiology J:101748
Ccm2Gt(RRG051)Byg/Ccm2+
involves: 129P2/OlaHsd * C57BL/6J 		abnormal brain vasculature morphology J:105314
intracranial hemorrhage J:105314
Ccm2Gt(RRG051)Byg/Ccm2Gt(RRG051)Byg
involves: 129P2/OlaHsd 		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/Ccm2Gt(RRG051)Byg
involves: 129P2/OlaHsd * C57BL/6J 		abnormal cardiovascular system morphology J:146527
abnormal first pharyngeal arch artery morphology J:146527
abnormal pharyngeal arch artery morphology J:146527
abnormal pharyngeal arch morphology J:146527
abnormal second pharyngeal arch artery morphology J:146527
abnormal third pharyngeal arch artery morphology J:146527
abnormal vitelline vascular remodeling J:146527
abnormal vitelline vasculature morphology J:146527
aorta stenosis J:146527
decreased angiogenesis J:146527
dilated dorsal aorta J:146527
embryonic lethality during organogenesis, complete penetrance J:146527
poor circulation J:146527
prenatal lethality, complete penetrance J:105314
Ccm2tm1.1Etl/Ccm2tm1.1Etl
B6.129-Ccm2tm1.1Etl 		delayed heart development J:146210
embryonic lethality during organogenesis, complete penetrance J:146210
excessive folding of visceral yolk sac J:146210
pale yolk sac J:146210
pericardial edema J:146210
Ccm2tm1.1Etl/Ccm2tm1Etl
Tg(Cdh5-cre/ERT2)1Rha/0
involves: 129 * C57BL/6 		abnormal brain vasculature morphology J:177584
abnormal cerebellum morphology J:177584
abnormal retina vasculature morphology J:177584
abnormal vascular endothelial cell morphology J:177584
cerebellum hemorrhage J:177584
dilated vasculature J:177584
postnatal lethality, complete penetrance J:177584
skin hemorrhage J:177584
Ccm2tm1.1Kwhi/Ccm2tm1.1Kwhi
involves: C57BL/6 		abnormal cardiovascular system morphology J:146527
abnormal first pharyngeal arch morphology J:146527
abnormal pharyngeal arch morphology J:146527
abnormal second pharyngeal arch morphology J:146527
abnormal third pharyngeal arch morphology J:146527
abnormal vitelline vascular remodeling J:146527
abnormal vitelline vasculature morphology J:146527
aorta stenosis J:146527
decreased angiogenesis J:146527
dilated dorsal aorta J:146527
embryonic lethality during organogenesis, complete penetrance J:146527
poor circulation J:146527
Ccm2tm1Etl/Ccm2tm1Etl
involves: 129 		abnormal vascular endothelial cell morphology J:177584
Ccm2tm1Etl/Ccm2tm1Etl
Tg(Nes-cre)1Kln/?
B6.Cg-Ccm2tm1Etl Tg(Nes-cre)1Kln 		no abnormal phenotype detected J:146210
Ccm2tm1Etl/Ccm2tm1Etl
Tg(Tek-cre)1Ywa/0
B6.Cg-Tg(Tek-cre)1Ywa Ccm2tm1Etl 		abnormal atrioventricular cushion morphology J:146210
abnormal brain vasculature morphology J:146210
abnormal cardinal vein morphology J:146210
abnormal choroid plexus morphology J:146210
abnormal dorsal aorta morphology J:146210
abnormal placental labyrinth vasculature morphology J:146210
abnormal sinus venosus morphology J:146210
abnormal somite development J:146210
absent vitelline blood vessels J:146210
disorganized extraembryonic tissue J:146210
embryonic growth arrest J:146210
embryonic lethality during organogenesis, complete penetrance J:146210
enlarged heart J:146210
increased heart atrium size J:146210
pale placenta J:146210
pale yolk sac J:146210
pericardial edema J:146210
thin ventricular wall J:146210
Ccm2tm1Kwhi/Ccm2tm1.1Kwhi
Tg(Nes-cre)1Kln/0
involves: C57BL/6 * SJL 		no abnormal phenotype detected J:146527
Ccm2tm1Kwhi/Ccm2tm1.1Kwhi
Tg(Pdgfb-icre/ERT2,-EGFP)1Frut/?
involves: C57BL/6 * CBA 		abnormal astrocyte morphology J:173947
abnormal brain vasculature morphology J:173947
abnormal pericyte morphology J:173947
CNS inflammation J:173947
postnatal lethality J:173947
Ccm2tm1Kwhi/Ccm2tm1.1Kwhi
Tg(Tagln-cre)1Jjl/0
involves: FVB/N 		no abnormal phenotype detected J:146527
Ccm2tm1Kwhi/Ccm2tm1.1Kwhi
Tg(Tek-cre)1Ywa/0
involves: C57BL/6 * SJL 		abnormal cardiovascular system morphology J:146527
abnormal first pharyngeal arch artery morphology J:146527
abnormal pharyngeal arch morphology J:146527
abnormal second pharyngeal arch artery morphology J:146527
abnormal third pharyngeal arch artery morphology J:146527
aorta stenosis J:146527
decreased angiogenesis J:146527
dilated dorsal aorta J:146527
embryonic lethality during organogenesis, complete penetrance J:146527
poor circulation J:146527
Ccm2tm1Kwhi/Ccm2tm1Kwhi
Tg(Nes-cre)1Kln/?
involves: C57BL/6 * SJL 		no abnormal phenotype detected J:173947
Ccm2tm1Mlkn/Ccm2tm1Mlkn
Nfatc1tm1.1(cre)Bz/Nfatc1+
involves: 129 * 129S1/Sv * 129X1/SvJ 		decreased cardiac jelly amount J:238897
lethality throughout fetal growth and development, complete penetrance J:238897
thin myocardium J:238897
Ccm2tm1Mlkn/Ccm2tm1Mlkn
Tg(Cdh5-cre/ERT2)1Rha/0
involves: 129 		abnormal brain vasculature morphology J:250906
Ccm2tm1Sbn/Ccm2tm1Sbn
involves: C57BL/6 		abnormal angiogenesis J:174085
abnormal artery development J:174085
abnormal developmental vascular remodeling J:174085
abnormal heart development J:174085
abnormal vascular branching morphogenesis J:174085
abnormal vascular smooth muscle morphology J:174085
abnormal vitelline vascular remodeling J:174085
embryonic lethality during organogenesis, complete penetrance J:174085
failure of heart looping J:174085
pericardial edema J:174085
short forehead J:174085
Ccm2tm2.1Sbn/Ccm2tm2.1Sbn
Tg(Mx1-cre)1Cgn/0
involves: C57BL/6 * CBA 		abnormal astrocyte morphology J:174085
abnormal brain vasculature morphology J:174085
ataxia J:174085
cerebellum hemorrhage J:174085
impaired blood-brain barrier function J:174085
intracerebral hemorrhage J:174085
intracranial hemorrhage J:174085
microgliosis J:174085
premature death J:174085
seizures J:174085
Ccm2tm2.1Sbn/Ccm2tm2.1Sbn
Tg(Tek-cre)1Ywa/0
involves: C57BL/6 * SJL 		abnormal artery development J:174085
abnormal developmental vascular remodeling J:174085
abnormal dorsal aorta morphology J:174085
abnormal heart development J:174085
abnormal vascular branching morphogenesis J:174085
abnormal vascular smooth muscle morphology J:174085
abnormal vitelline vascular remodeling J:174085
embryonic growth retardation J:174085
failure of heart looping J:174085
Contributing Projects:
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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Send questions and comments to User Support. 		last database update
10/29/2024
MGI 6.24 		The Jackson Laboratory