Phenotypes associated with this allele

• Allele Symbol: Ccm2^{Gt(RRG051)Byg}
• Allele Name: gene trap RRG051, BayGenomics
• Allele ID: MGI:3512761
• Summary: 8 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ccm2^Gt(RRG051)Byg/Ccm2^Gt(RRG051)Byg	involves: 129P2/OlaHsd	MGI:3838395
hm2	Ccm2^Gt(RRG051)Byg/Ccm2^Gt(RRG051)Byg	involves: 129P2/OlaHsd * C57BL/6J	MGI:3764847
ht3	Ccm2^Gt(RRG051)Byg/Ccm2^+	involves: 129P2/OlaHsd	MGI:3606247
ht4	Ccm2^Gt(RRG051)Byg/Ccm2^+	involves: 129P2/OlaHsd * C57BL/6J	MGI:3764846
cx5	Ccm2l^tm1Mlkn/Ccm2l^tm1Mlkn Ccm2^Gt(RRG051)Byg/Ccm2^+ Heg1^tm1Mlkn/Heg1^tm1Mlkn	involves: 129 * 129P2/OlaHsd * C57BL/6	MGI:5439510
cx6	Ccm2l^tm1Mlkn/Ccm2l^tm1Mlkn Ccm2^Gt(RRG051)Byg/Ccm2^+	involves: 129 * 129P2/OlaHsd * C57BL/6	MGI:5439511
cx7	Ccm2^Gt(RRG051)Byg/Ccm2^+ Heg1^tm1Mlkn/Heg1^tm1Mlkn	involves: 129 * 129P2/OlaHsd * C57BL/6	MGI:5439512
cx8	Ccm2^Gt(RRG051)Byg/Ccm2^+ Heg1^tm1Mlkn/Heg1^+	involves: 129/Sv * 129P2/OlaHsd * C57BL/6	MGI:3838394

Genotype
MGI:3838395

hm1

• Allelic Composition: Ccm2^{Gt(RRG051)Byg}/Ccm2^{Gt(RRG051)Byg}
• Genetic Background: involves: 129P2/OlaHsd

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:146528 )

• die before E10

cardiovascular system

abnormal dorsal aorta morphology ( J:146528 )

• the paired dorsal aortas are small or undetectable and completely lack luminal blood at E9

abnormal cardinal vein morphology ( J:146528 )

• when visible the cardinal veins are devoid of luminal blood except at the point where it attaches to the sinus venosus

abnormal vascular endothelial cell development ( J:146528 )

• endothelial cells are present but fail to form lumenized vessels

• in the aorta endothelial junctions are shortened

abnormal vasculogenesis ( J:146528 )

• fail to form lumenized vessels

dilated aortic sac ( J:146528 )

• a dilated aortic sac is seen at E9

hemopericardium ( J:146528 )

• blood cells are frequently detected in the pericardial cavity

pericardial edema ( J:146528 )

• starting at E9

embryo

embryonic growth retardation ( J:146528 )

• starting at E9

homeostasis/metabolism

hemopericardium ( J:146528 )

• blood cells are frequently detected in the pericardial cavity

pericardial edema ( J:146528 )

• starting at E9

growth/size/body

embryonic growth retardation ( J:146528 )

• starting at E9

Genotype
MGI:3764847

hm2

• Allelic Composition: Ccm2^{Gt(RRG051)Byg}/Ccm2^{Gt(RRG051)Byg}
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

mortality/aging

prenatal lethality, complete penetrance ( J:105314 )

• no live-born homozygotes are observed; time of lethality not specified

embryonic lethality during organogenesis, complete penetrance ( J:146527 )

• mice die between E9-E10 from failed angiogenesis

cardiovascular system

abnormal cardiovascular system morphology ( J:146527 )

dilated dorsal aorta ( J:146527 )

• the caudal portion of the dorsal aorta becomes enlarged in 8.5 embryos

abnormal pharyngeal arch artery morphology ( J:146527 )

• the branchial arch arteries, the first essential angiogenic vessels, fail to form a stable lumen in E8.5 embryos

abnormal first pharyngeal arch artery morphology ( J:146527 )

• the first branchial arch artery of E8.5 embryos fails to form a proper lumen

abnormal second pharyngeal arch artery morphology ( J:146527 )

• the second branchial arch artery of E8.5 embryos fails to form a proper lumen

abnormal third pharyngeal arch artery morphology ( J:146527 )

• the third branchial arch artery of E8.5 embryos fail to form a proper lumen

aorta stenosis ( J:146527 )

• adjacent portions of the aorta are narrow and irregular

decreased angiogenesis ( J:146527 )

• the branchial arch arteries, the first essential angiogenic vessels, fail to form a stable lumen in E8.5 embryos

• the heart is not functionally connected with the vasculature, and circulation fails to initiate

abnormal vitelline vasculature morphology ( J:146527 )

• E9.0 embryos fail to organize the yolk sac vasculature

poor circulation ( J:146527 )

• circulation is not established in E8.5 embryos

craniofacial

abnormal pharyngeal arch morphology ( J:146527 )

abnormal pharyngeal arch artery morphology ( J:146527 )

• the branchial arch arteries, the first essential angiogenic vessels, fail to form a stable lumen in E8.5 embryos

abnormal first pharyngeal arch artery morphology ( J:146527 )

• the first branchial arch artery of E8.5 embryos fails to form a proper lumen

abnormal second pharyngeal arch artery morphology ( J:146527 )

• the second branchial arch artery of E8.5 embryos fails to form a proper lumen

abnormal third pharyngeal arch artery morphology ( J:146527 )

• the third branchial arch artery of E8.5 embryos fail to form a proper lumen

embryo

abnormal vitelline vasculature morphology ( J:146527 )

• E9.0 embryos fail to organize the yolk sac vasculature

abnormal pharyngeal arch morphology ( J:146527 )

abnormal pharyngeal arch artery morphology ( J:146527 )

• the branchial arch arteries, the first essential angiogenic vessels, fail to form a stable lumen in E8.5 embryos

abnormal first pharyngeal arch artery morphology ( J:146527 )

• the first branchial arch artery of E8.5 embryos fails to form a proper lumen

abnormal second pharyngeal arch artery morphology ( J:146527 )

• the second branchial arch artery of E8.5 embryos fails to form a proper lumen

abnormal third pharyngeal arch artery morphology ( J:146527 )

• the third branchial arch artery of E8.5 embryos fail to form a proper lumen

abnormal vitelline vascular remodeling ( J:146527 )

• yolk sac vascular remodeling is abnormal in E8.5 embryos

Genotype
MGI:3606247

ht3

• Allelic Composition: Ccm2^{Gt(RRG051)Byg}/Ccm2⁺
• Genetic Background: involves: 129P2/OlaHsd

cellular

abnormal cell physiology ( J:101748 )

• in heterozygous MEFs MAPK14 activation in response to hyperosmotic stress is reduced

Genotype
MGI:3764846

ht4

• Allelic Composition: Ccm2^{Gt(RRG051)Byg}/Ccm2⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

Vascular malformations in the brains of Ccm2^{Gt(RRG051)Byg}/Ccm2⁺ mice

cardiovascular system

abnormal brain vasculature morphology ( J:105314 )

• develop cerebral vascular malformations, including hemorrhaging, at low penetrance; clusters of blood vessels are similar to small cavernous malformations or capillary telangiectasias

intracranial hemorrhage ( J:105314 )

• low penetrance

nervous system

abnormal brain vasculature morphology ( J:105314 )

• develop cerebral vascular malformations, including hemorrhaging, at low penetrance; clusters of blood vessels are similar to small cavernous malformations or capillary telangiectasias

intracranial hemorrhage ( J:105314 )

• low penetrance

Genotype
MGI:5439510

cx5

• Allelic Composition: Ccm2l^tm1Mlkn/Ccm2l^tm1Mlkn; Ccm2^{Gt(RRG051)Byg}/Ccm2⁺; Heg1^tm1Mlkn/Heg1^tm1Mlkn
• Genetic Background: involves: 129 * 129P2/OlaHsd * C57BL/6

mortality/aging

prenatal lethality, incomplete penetrance ( J:187714 )

• about half survive

cardiovascular system

abnormal cardiovascular development ( J:187714 )

• about half exhibit normal cardiovascular development

Genotype
MGI:5439511

cx6

• Allelic Composition: Ccm2l^tm1Mlkn/Ccm2l^tm1Mlkn; Ccm2^{Gt(RRG051)Byg}/Ccm2⁺
• Genetic Background: involves: 129 * 129P2/OlaHsd * C57BL/6

normal phenotype

no abnormal phenotype detected ( J:187714 )

• viable and fertile

Genotype
MGI:5439512

cx7

• Allelic Composition: Ccm2^{Gt(RRG051)Byg}/Ccm2⁺; Heg1^tm1Mlkn/Heg1^tm1Mlkn
• Genetic Background: involves: 129 * 129P2/OlaHsd * C57BL/6

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:187714 )

• die prior to E12

cardiovascular system

abnormal pharyngeal arch artery morphology ( J:187714 )

• defects in development

craniofacial

abnormal pharyngeal arch artery morphology ( J:187714 )

• defects in development

embryo

abnormal pharyngeal arch artery morphology ( J:187714 )

• defects in development

Genotype
MGI:3838394

cx8

• Allelic Composition: Ccm2^{Gt(RRG051)Byg}/Ccm2⁺; Heg1^tm1Mlkn/Heg1⁺
• Genetic Background: involves: 129/Sv * 129P2/OlaHsd * C57BL/6

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:146528 )

• die before E10

cardiovascular system

abnormal dorsal aorta morphology ( J:146528 )

• the paired dorsal aortas are small or undetectable and completely lack luminal blood at E9

abnormal cardinal vein morphology ( J:146528 )

• when visible the cardinal veins are devoid of luminal blood except at the point where it attaches to the sinus venosus

abnormal vascular endothelial cell development ( J:146528 )

• endothelial cells are present but fail to form lumenized vessels

abnormal vasculogenesis ( J:146528 )

• fail to form lumenized vessels

dilated aortic sac ( J:146528 )

• a dilated aortic sac is seen at E9

hemopericardium ( J:146528 )

• blood cells are frequently detected in the pericardial cavity

pericardial edema ( J:146528 )

• starting at E9

embryo

embryonic growth retardation ( J:146528 )

• starting at E9

homeostasis/metabolism

hemopericardium ( J:146528 )

• blood cells are frequently detected in the pericardial cavity

pericardial edema ( J:146528 )

• starting at E9

growth/size/body

embryonic growth retardation ( J:146528 )

• starting at E9