Phenotypes associated with this allele

• Allele Symbol: Ccm2⁺
• Allele Name: wild type
• Allele ID: MGI:3048119
• Summary: 7 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Ccm2^Gt(RRG051)Byg/Ccm2^+	involves: 129P2/OlaHsd	MGI:3606247
ht2	Ccm2^Gt(RRG051)Byg/Ccm2^+	involves: 129P2/OlaHsd * C57BL/6J	MGI:3764846
cn3	Ccm2l^tm1Mlkn/Ccm2l^tm1Mlkn Ccm2^tm1Mlkn/Ccm2^+ Heg1^tm1Mlkn/Heg1^tm2.1Mlkn Tg(Tek-cre)1Ywa/0	involves: 129 * C57BL/6 * SJL	MGI:5439515
cx4	Ccm2l^tm1Mlkn/Ccm2l^tm1Mlkn Ccm2^Gt(RRG051)Byg/Ccm2^+ Heg1^tm1Mlkn/Heg1^tm1Mlkn	involves: 129 * 129P2/OlaHsd * C57BL/6	MGI:5439510
cx5	Ccm2l^tm1Mlkn/Ccm2l^tm1Mlkn Ccm2^Gt(RRG051)Byg/Ccm2^+	involves: 129 * 129P2/OlaHsd * C57BL/6	MGI:5439511
cx6	Ccm2^Gt(RRG051)Byg/Ccm2^+ Heg1^tm1Mlkn/Heg1^tm1Mlkn	involves: 129 * 129P2/OlaHsd * C57BL/6	MGI:5439512
cx7	Ccm2^Gt(RRG051)Byg/Ccm2^+ Heg1^tm1Mlkn/Heg1^+	involves: 129/Sv * 129P2/OlaHsd * C57BL/6	MGI:3838394

Genotype
MGI:3606247

ht1

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

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

cellular

abnormal cell physiology ( J:101748 )

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

Genotype
MGI:3764846

ht2

• 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:5439515

cn3

• Allelic Composition: Ccm2l^tm1Mlkn/Ccm2l^tm1Mlkn; Ccm2^tm1Mlkn/Ccm2⁺; Heg1^tm1Mlkn/Heg1^tm2.1Mlkn; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129 * C57BL/6 * SJL

mortality/aging

prenatal lethality, incomplete penetrance ( J:187714 )

• some survivors are detected

Genotype
MGI:5439510

cx4

• 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

cx5

• 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

cx6

• 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

cx7

• 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