Mouse Genome Informatics
hm
    Engtm1Dyl/Engtm1Dyl
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• no homozygotes survive beyond E11.5

cardiovascular system
• atretic and disorganized
• intersomitic vessels are atretic and disorganized
• homozygotes display disruption of vascular development between E9.5 and E10.5
• disorganized and atretic
• homozygotes display defective endothelial remodeling between E9.5 and E10.5
• at E10.5, homozygotes still display an immature perineural vascular plexus that fails to undergo endothelial remodeling
• at E10.5, homozygotes display multiple pockets of red blood cells on the surface of yolk sacs; no organized vitelline blood vessels are observed
• as early as E9.5, homozygotes display poor vascular smooth muscle formation in embryonic tissues; a similar defect is noted at E8.5 in mutant yok sacs
• arrested vascular smooth muscle development in mutant yolk sacs precedes disruption of endothelial remodeling
• at E10.5, the major vessels including the dorsal aortae, intersomitic vessels, branchial arches, and carotid arteries are atretic and disorganized
• at E10.5, the mutant heart tube continues to circulate blood but fails to undergo complete rotation
• at E10.5, homozygotes exhibit serosanguinous pericardial effusion

embryogenesis
• at E10.5, homozygotes display multiple pockets of red blood cells on the surface of yolk sacs; no organized vitelline blood vessels are observed
• at E10.5, homozygotes are 3 times smaller than wild-type embryos
• at E10.5, homozygotes contain only 18-22 somites while wild-type embryos contain 32-35 somites

growth/size
• at E10.5, homozygotes are 3 times smaller than wild-type embryos

muscle
• as early as E9.5, homozygotes display poor vascular smooth muscle formation in embryonic tissues; a similar defect is noted at E8.5 in mutant yok sacs
• arrested vascular smooth muscle development in mutant yolk sacs precedes disruption of endothelial remodeling

homeostasis/metabolism
• at E10.5, homozygotes exhibit serosanguinous pericardial effusion

Mouse Models of Human Disease
OMIM IDRef(s)
Telangiectasia, Hereditary Hemorrhagic, of Rendu, Osler, and Weber; 187300 J:55403