Phenotypes associated with this allele

• Allele Symbol: Vegfa^tm4Pec
• Allele Name: targeted mutation 4, Peter Carmeliet
• Allele ID: MGI:2386595
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Vegfa^tm4Pec/Vegfa^tm4Pec	involves: 129S1/Sv * 129X1/SvJ	MGI:3628757

Genotype
MGI:3628757

hm1

• Allelic Composition: Vegfa^tm4Pec/Vegfa^tm4Pec
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

mortality/aging

embryonic lethality during organogenesis, incomplete penetrance ( J:75507 , J:81698 )

• about half die between E9.5 and E13.5 and the rest survive for prolonged periods after birth (J:81698)

growth/size/body

decreased body weight ( J:75507 )

• surviving mice gain less weight at 7 weeks of age

cardiovascular system

abnormal blood vessel morphology ( J:81698 )

• 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

abnormal arteriole morphology ( J:75507 )

• arterioles, but not venules, in the retina are smaller and extend over only 18% of the vascular bed (compared to 90% in controls)

persistent right dorsal aorta ( J:81698 )

• about 10% of embryos exhibit a dominant right dorsal aorta

abnormal pharyngeal arch artery morphology ( J:81698 )

• 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

abnormal fourth pharyngeal arch artery morphology ( J:81698 )

• 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

abnormal sixth pharyngeal arch artery morphology ( J:81698 )

• variable defects

abnormal third pharyngeal arch artery morphology ( J:81698 )

• variable defects

pulmonary trunk hypoplasia ( J:81698 )

• hypoplasia of the pulmonary trunk

retroesophageal right subclavian artery ( J:81698 )

• malformations of the 4th arch artery include retroesophageal right subclavian artery

interrupted aortic arch, type b ( J:81698 )

• malformations of the 4th arch artery include type-B left 4th aortic arch interruption

right aortic arch ( J:81698 )

• malformations of the 4th arch artery include a right-sided aortic arch

double aortic arch ( J:81698 )

• malformations of the 4th arch artery include a double aortic arch

abnormal retina vasculature morphology ( J:75507 )

• 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

abnormal vascular regression ( J:81698 )

• exhibit signs of regression in vessels of the pharyngeal arch that should normally persist

persistent truncus arteriosus ( J:81698 )

ventricular septal defect ( J:81698 )

• ventricular septal defect

reproductive system

reduced fertility ( J:75507 )

• fewer number of litters during 4 months

decreased litter size ( J:75507 )

vision/eye

abnormal retina vasculature morphology ( J:75507 )

• 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

abnormal pharyngeal arch artery morphology ( J:81698 )

• 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

abnormal fourth pharyngeal arch artery morphology ( J:81698 )

• 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

abnormal sixth pharyngeal arch artery morphology ( J:81698 )

• variable defects

abnormal third pharyngeal arch artery morphology ( J:81698 )

• variable defects

pharyngeal arch hypoplasia ( J:81698 )

• the first three pharyngeal arches are hypoplastic in 19% of E9.5 embryos

embryo

abnormal pharyngeal arch artery morphology ( J:81698 )

• 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

abnormal fourth pharyngeal arch artery morphology ( J:81698 )

• 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

abnormal sixth pharyngeal arch artery morphology ( J:81698 )

• variable defects

abnormal third pharyngeal arch artery morphology ( J:81698 )

• variable defects

pharyngeal arch hypoplasia ( J:81698 )

• the first three pharyngeal arches are hypoplastic in 19% of E9.5 embryos

respiratory system

respiratory system phenotype ( J:77480 )

N • neonates display normal pulmonary development

cellular

abnormal vascular regression ( J:81698 )

• 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