Phenotypes associated with this allele

• Allele Symbol: Vezf1^tm1Stmn
• Allele Name: targeted mutation 1, Heidi Stuhlmann
• Allele ID: MGI:3583268
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Vezf1^tm1Stmn/Vezf1^tm1Stmn	B6.129-Vezf1^tm1Stmn	MGI:3583442
hm2	Vezf1^tm1Stmn/Vezf1^tm1Stmn	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3583444
ht3	Vezf1^tm1Stmn/Vezf1^+	B6.129-Vezf1^tm1Stmn	MGI:3583443
ht4	Vezf1^tm1Stmn/Vezf1^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3583445

Genotype
MGI:3583442

hm1

• Allelic Composition: Vezf1^tm1Stmn/Vezf1^tm1Stmn
• Genetic Background: B6.129-Vezf1^tm1Stmn

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

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:99326 )

• Background Sensitivity: embryonic death as early as E9.5 with hemorrhaging, retarded or resorbed embryos, at sub-Mendelian ratios, found as late as E16.5

cardiovascular system

abnormal blood vessel morphology ( J:99326 )

• loss of vascular integrity in embryos

• Background Sensitivity: E11.5 frontal head sections reveal leaky small blood vessels localized immediately adjacent to the pia mater and at more distal sites in the meningeal plexus

abnormal vascular endothelial cell morphology ( J:99326 )

• Background Sensitivity: E11.5 frontal head sections reveal gaps between endothelial cells, extravasation of nucleated erythrocytes, and incomplete cell-cell junctions

• Background Sensitivity: defective endothelial cell adhesion and tight junction formation

• Background Sensitivity: endothelial cells are discontinuous and fragmented with abnormal filopodia-like protrusions and excessive fenestration

• Background Sensitivity: incomplete basal lamina discerned under high magnification

abnormal capillary morphology ( J:99326 )

• Background Sensitivity: E11.5 frontal head sections reveal leaky capillaries localized immediately adjacent to the pia mater or at more distal sites in the meningeal plexus

abnormal angiogenesis ( J:99326 )

• Background Sensitivity: remodeling defects in the head, the aortic arch artery system, the heart, the trunk and the intersomitic vessels of embryos between E9.5 and E10.5

• Background Sensitivity: the vasculature in the head, neck and back is less branched and underdeveloped

• Background Sensitivity: increased disorganization of the trunk vessels and further deterioration of the arch arteries at E10.5

• Background Sensitivity: by E12.5 normal vascular patterning observed

abnormal pharyngeal arch artery morphology ( J:99326 )

• Background Sensitivity: the first and second aortic arch arteries frequently fail to develop

• Background Sensitivity: further deterioration of the arch arteries at E10.5

blood vessel atresia ( J:99326 )

• Background Sensitivity: head, neck and back vasculature show poor organization, less branching and appear underdeveloped

internal hemorrhage ( J:99326 )

• Background Sensitivity: intraembryonic hemorrhage becomes apparent at E9.5

• Background Sensitivity: localized hemorrhaging typically in the head and neck at E12.5

• parasagittal sections of embryos reveal distinct sites of internal bleeding, typically in the head, heart and trunk

• Background Sensitivity: the few embryos which survive to E16 display incompletely penetrant localized hemorrhaging

embryo

abnormal pharyngeal arch artery morphology ( J:99326 )

• Background Sensitivity: the first and second aortic arch arteries frequently fail to develop

• Background Sensitivity: further deterioration of the arch arteries at E10.5

decreased embryo size ( J:99326 )

• Background Sensitivity: hemorrhaging, retarded or resorbed embryos at sub-Mendelian ratios found up to E16.5

growth/size/body

decreased embryo size ( J:99326 )

• Background Sensitivity: hemorrhaging, retarded or resorbed embryos at sub-Mendelian ratios found up to E16.5

craniofacial

abnormal pharyngeal arch artery morphology ( J:99326 )

• Background Sensitivity: the first and second aortic arch arteries frequently fail to develop

• Background Sensitivity: further deterioration of the arch arteries at E10.5

Genotype
MGI:3583444

hm2

• Allelic Composition: Vezf1^tm1Stmn/Vezf1^tm1Stmn
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

mortality/aging

perinatal lethality, incomplete penetrance ( J:99326 )

• stillborn pups detected at approximately 60% of the expected Mendelian frequency

cardiovascular system

abnormal blood vessel morphology ( J:99326 )

• between E12.5 and birth, embryos display varying degrees of vascular malformation in the head and trunk region

hemorrhage ( J:99326 )

• stillborn pups display intraembryonic hemorrhage

• Background Sensitivity: between E12.5 and birth, embryos display varying degrees of vascular malformation in the head and trunk region

embryo

embryo phenotype ( J:99326 )

N • embryos appear phenotypically normal up to E11.5

N • between E12.5 and birth many embryos were resorbed

Genotype
MGI:3583443

ht3

• Allelic Composition: Vezf1^tm1Stmn/Vezf1⁺
• Genetic Background: B6.129-Vezf1^tm1Stmn

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:99326 )

• Background Sensitivity: hemorrhaging embryos die before E14.5

• Background Sensitivity: non-hemorrhaging embryos develop into viable, fertile adults with no apparent abnormalities

cardiovascular system

abnormal blood vessel morphology ( J:99326 )

• Background Sensitivity: hypervascularization detected in close association with the jugular sac

• Background Sensitivity: blood filled, enlarged, irregularly shaped, and anastomosing vessels in the jugular region

• Background Sensitivity: increased overall vessel number (50%) and total vessel area (130%) in the mid-back region

• Background Sensitivity: vascular lesions with erythrocytes leaking out into the mesenchymal tissue observed between E12.5 and E13.5

internal hemorrhage ( J:99326 )

• Background Sensitivity: beginning at E12.5, about 20% of embryos display localized edema and hemorrhaging in the back and jugular region

• Background Sensitivity: by E13.5 embryos appear bloated and displayed massive edema and bleeding

• Background Sensitivity: parasagittal embryo sections show severe edema with masses of loose connective tissue and mesenchymal cells separated by interstitial fluid and subcutaneous bleeding in the back and neck region

• Background Sensitivity: hemorrhaging embryos not detected past E14.5

immune system

abnormal lymphatic vessel morphology ( J:99326 )

• Background Sensitivity: lymphatic hypervascularization in the jugular region of embryos

embryo

increased embryo size ( J:99326 )

• Background Sensitivity: embryos appear bloated at E12.5

growth/size/body

increased embryo size ( J:99326 )

• Background Sensitivity: embryos appear bloated at E12.5

Genotype
MGI:3583445

ht4

• Allelic Composition: Vezf1^tm1Stmn/Vezf1⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

mortality/aging

prenatal lethality, incomplete penetrance ( J:99326 )

• Background Sensitivity: offspring recovered at a ratio of 41% heterozygote to 59% wildtype

cardiovascular system

abnormal blood vessel morphology ( J:99326 )

• Background Sensitivity: approximately 10% of embryos display vascular abnormalities