mortality/aging
• about half die between E9.5 and E13.5 and the rest survive for prolonged periods after birth
(J:81698)
|
growth/size/body
• surviving mice gain less weight at 7 weeks of age
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cardiovascular system
• about 50% of neonates exhibit severe DiGeorge syndome-like vessel malformations
• vascular defects are so severe in 19% of embryos that they cause circulatory collapse by E13.5
|
• arterioles, but not venules, in the retina are smaller and extend over only 18% of the vascular bed (compared to 90% in controls)
|
• about 10% of embryos exhibit a dominant right dorsal aorta
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• E14.5 embryos and neonates have remodeling defects of the 4th, 6th and, less frequently, 3rd pharyngeal arch arteries
• in E9.5 embryos, the arch arteries appear as primitive capillary networks, often with an irregular small lumen and signs of regression (19%)
• while the 3rd, 4th and 6th pharyngeal arch arteries are present by E10-10.5, subsequent malformations include hypoplasia, an irregular lumen size, and signs of regression in vessels that should normally persist
|
• variable defects
• malformations of the 4th arch artery include a persistence of the carotid duct segment between the left carotid and subclavian artery and a descending aorta
|
• variable defects
|
• variable defects
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• hypoplasia of the pulmonary trunk
|
• malformations of the 4th arch artery include retroesophageal right subclavian artery
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• malformations of the 4th arch artery include type-B left 4th aortic arch interruption
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• malformations of the 4th arch artery include a right-sided aortic arch
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• malformations of the 4th arch artery include a double aortic arch
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• at P9, only half the normal number of arterioles develop, they are smaller in size, and grow out over only 17% of the retina
• capillary pruning is decreased, resulting in a more dense capillary bed and a slight increase in the number of periendothelial cells per retinal cell
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• exhibit signs of regression in vessels of the pharyngeal arch that should normally persist
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• ventricular septal defect
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reproductive system
• fewer number of litters during 4 months
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vision/eye
• at P9, only half the normal number of arterioles develop, they are smaller in size, and grow out over only 17% of the retina
• capillary pruning is decreased, resulting in a more dense capillary bed and a slight increase in the number of periendothelial cells per retinal cell
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craniofacial
• E14.5 embryos and neonates have remodeling defects of the 4th, 6th and, less frequently, 3rd pharyngeal arch arteries
• in E9.5 embryos, the arch arteries appear as primitive capillary networks, often with an irregular small lumen and signs of regression (19%)
• while the 3rd, 4th and 6th pharyngeal arch arteries are present by E10-10.5, subsequent malformations include hypoplasia, an irregular lumen size, and signs of regression in vessels that should normally persist
|
• variable defects
• malformations of the 4th arch artery include a persistence of the carotid duct segment between the left carotid and subclavian artery and a descending aorta
|
• variable defects
|
• variable defects
|
• the first three pharyngeal arches are hypoplastic in 19% of E9.5 embryos
|
embryo
• E14.5 embryos and neonates have remodeling defects of the 4th, 6th and, less frequently, 3rd pharyngeal arch arteries
• in E9.5 embryos, the arch arteries appear as primitive capillary networks, often with an irregular small lumen and signs of regression (19%)
• while the 3rd, 4th and 6th pharyngeal arch arteries are present by E10-10.5, subsequent malformations include hypoplasia, an irregular lumen size, and signs of regression in vessels that should normally persist
|
• variable defects
• malformations of the 4th arch artery include a persistence of the carotid duct segment between the left carotid and subclavian artery and a descending aorta
|
• variable defects
|
• variable defects
|
• the first three pharyngeal arches are hypoplastic in 19% of E9.5 embryos
|
respiratory system
N |
• neonates display normal pulmonary development
|
cellular
• exhibit signs of regression in vessels of the pharyngeal arch that should normally persist
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
DiGeorge syndrome | DOID:11198 |
OMIM:188400 |
J:81698 |