Phenotypes Associated with This Genotype

Genotype
MGI:2177905

• Allelic Composition: Eng^tm1Dyl/Eng^tm1Dyl
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:55403 )

• no homozygotes survive beyond E11.5

cardiovascular system

abnormal carotid artery morphology ( J:55403 )

• atretic and disorganized

abnormal intersomitic vessel morphology ( J:55403 )

• intersomitic vessels are atretic and disorganized

abnormal vascular development ( J:55403 )

• homozygotes display disruption of vascular development between E9.5 and E10.5

abnormal dorsal aorta morphology ( J:55403 )

• disorganized and atretic

decreased angiogenesis ( J:55403 )

• homozygotes display defective endothelial remodeling between E9.5 and E10.5

abnormal perineural vascular plexus morphology ( J:55403 )

• at E10.5, homozygotes still display an immature perineural vascular plexus that fails to undergo endothelial remodeling

abnormal vitelline vasculature morphology ( J:55403 )

• at E10.5, homozygotes display multiple pockets of red blood cells on the surface of yolk sacs; no organized vitelline blood vessels are observed

abnormal vascular smooth muscle morphology ( J:55403 )

• 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

blood vessel atresia ( J:55403 )

• at E10.5, the major vessels including the dorsal aortae, intersomitic vessels, branchial arches, and carotid arteries are atretic and disorganized

failure of heart looping ( J:55403 )

• at E10.5, the mutant heart tube continues to circulate blood but fails to undergo complete rotation

pericardial effusion ( J:55403 )

• at E10.5, homozygotes exhibit serosanguinous pericardial effusion

embryo

abnormal vitelline vasculature morphology ( J:55403 )

• at E10.5, homozygotes display multiple pockets of red blood cells on the surface of yolk sacs; no organized vitelline blood vessels are observed

decreased embryo size ( J:55403 )

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

incomplete somite formation ( J:55403 )

• at E10.5, homozygotes contain only 18-22 somites while wild-type embryos contain 32-35 somites

growth/size/body

decreased embryo size ( J:55403 )

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

muscle

abnormal vascular smooth muscle morphology ( J:55403 )

• 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

pericardial effusion ( J:55403 )

• at E10.5, homozygotes exhibit serosanguinous pericardial effusion

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hereditary hemorrhagic telangiectasia		DOID:1270	OMIM:187300 OMIM:600376 OMIM:601101 OMIM:615506	J:55403