Phenotypes associated with this allele

• Allele Symbol: Ccm2^tm1Sbn
• Allele Name: targeted mutation 1, Ulrich Siebenlist
• Allele ID: MGI:5085314
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ccm2^tm1Sbn/Ccm2^tm1Sbn	involves: C57BL/6	MGI:5085317

Genotype
MGI:5085317

hm1

• Allelic Composition: Ccm2^tm1Sbn/Ccm2^tm1Sbn
• Genetic Background: involves: C57BL/6

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

craniofacial

short forehead ( J:174085 )

• truncated forehead region by E8.5 - E9.5

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:174085 )

• all are dead by E10

cardiovascular system

abnormal angiogenesis ( J:174085 )

• head and intersomitic vasculature fail to assemble properly at E8.5 - E9.5

abnormal artery development ( J:174085 )

• expression analysis suggests that arteriogenesis is deficient

abnormal developmental vascular remodeling ( J:174085 )

• while the head and vitelline vascular plexi form they are not remodeled

abnormal vascular branching morphogenesis ( J:174085 )

• the dorsal aorta and posterior cardinal veins fuse with relatively little branching unlike in controls

abnormal vascular smooth muscle morphology ( J:174085 )

• at E9.5 no smooth muscle cells are detected around the dorsal aorta

abnormal heart development ( J:174085 )

• failure of endocardium expansion

• no or significantly deficient ventricular trabeculation

• arrested heart development by E8.5 - E9.5

failure of heart looping ( J:174085 )

• incomplete looping

pericardial edema ( J:174085 )

• by E8.5 - E9.5

homeostasis/metabolism

pericardial edema ( J:174085 )

• by E8.5 - E9.5

embryo

abnormal vitelline vascular remodeling ( J:174085 )

• absence of remodeling of the capillary plexus at E8.5 - E9.5

muscle

abnormal vascular smooth muscle morphology ( J:174085 )

• at E9.5 no smooth muscle cells are detected around the dorsal aorta

growth/size/body

short forehead ( J:174085 )

• truncated forehead region by E8.5 - E9.5