Phenotypes Associated with This Genotype

Genotype
MGI:5085318

• Allelic Composition: Ccm2^tm2.1Sbn/Ccm2^tm2.1Sbn; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: C57BL/6 * SJL

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

cardiovascular system

abnormal artery development ( J:174085 )

• expression analysis suggests that arteriogenesis is deficient

abnormal dorsal aorta morphology ( J:174085 )

• at E9.5 no smooth muscle cells are detected around the dorsal aorta and no proper lumen is formed

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

failure of heart looping ( J:174085 )

• incomplete looping

embryo

embryonic growth retardation ( J:174085 )

• less severe than in homozygous null mice

abnormal vitelline vascular remodeling ( J:174085 )

• failure of remodeling

growth/size/body

embryonic growth retardation ( J:174085 )

• less severe than in homozygous null mice

muscle

abnormal vascular smooth muscle morphology ( J:174085 )

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

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	cerebral cavernous malformation 2	DOID:0060670	OMIM:603284	J:174085