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Phenotypes Associated with This Genotype
Genotype
MGI:3628757
Allelic
Composition
Vegfatm4Pec/Vegfatm4Pec
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Vegfatm4Pec mutation (1 available); any Vegfa mutation (20 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
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

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
• 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
• hypoplasia of the pulmonary trunk
• malformations of the 4th arch artery include retroesophageal right subclavian artery
• malformations of the 4th arch artery include type-B left 4th aortic arch interruption
• malformations of the 4th arch artery include a right-sided aortic arch
• malformations of the 4th arch artery include a double aortic arch
• 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
• exhibit signs of regression in vessels of the pharyngeal arch that should normally persist
• ventricular septal defect

reproductive system
• fewer number of litters during 4 months

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

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
• 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
• 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


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
09/10/2019
MGI 6.14
The Jackson Laboratory