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Phenotypes Associated with This Genotype
Genotype
MGI:5085318
Allelic
Composition
Ccm2tm2.1Sbn/Ccm2tm2.1Sbn
Tg(Tek-cre)1Ywa/0
Genetic
Background
involves: C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ccm2tm2.1Sbn mutation (0 available); any Ccm2 mutation (39 available)
Tg(Tek-cre)1Ywa mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• expression analysis suggests that arteriogenesis is deficient
• at E9.5 no smooth muscle cells are detected around the dorsal aorta and no proper lumen is formed
• while the head and vitelline vascular plexi form they are not remodeled
• the dorsal aorta and posterior cardinal veins fuse with relatively little branching unlike in controls
• at E9.5 no smooth muscle cells are detected around the dorsal aorta
• failure of endocardium expansion
• no or significantly deficient ventricular trabeculation
• incomplete looping

embryo
• less severe than in homozygous null mice
• failure of remodeling

growth/size/body
• less severe than in homozygous null mice

muscle
• 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


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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last database update
10/01/2019
MGI 6.14
The Jackson Laboratory