Phenotypes associated with this allele

• Allele Symbol: Plxnd1^tm1Joe
• Allele Name: targeted mutation 1, Jonathan A Epstein
• Allele ID: MGI:3050678
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Plxnd1^tm1Joe/Plxnd1^tm1Joe	involves: 129S1/Sv * 129X1/SvJ	MGI:3848823
hm2	Plxnd1^tm1Joe/Plxnd1^tm1Joe	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3051132

Genotype
MGI:3848823

hm1

• Allelic Composition: Plxnd1^tm1Joe/Plxnd1^tm1Joe
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

cardiovascular system

abnormal vascular endothelial cell migration ( J:143763 )

• primary endothelial cells exhibit less robust migration in a Boyden chamber migration assay and do not respond to Sema3A unlike wild-type cells

• aortic rings fail to exhibit a response to Sema3A unlike wild-type cells

skeleton

abnormal vertebral body morphology ( J:143763 )

• poorly formed and frequently fused or split in the lumbar and thoracic regions

fusion of vertebral bodies ( J:143763 )

• frequently fused in the lumbar and thoracic regions

• in the one mouse that survives into adulthood, vertebral bodies are fused along the entire anterior-posterior axis

cellular

abnormal vascular endothelial cell migration ( J:143763 )

• primary endothelial cells exhibit less robust migration in a Boyden chamber migration assay and do not respond to Sema3A unlike wild-type cells

• aortic rings fail to exhibit a response to Sema3A unlike wild-type cells

Genotype
MGI:3051132

hm2

• Allelic Composition: Plxnd1^tm1Joe/Plxnd1^tm1Joe
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

mortality/aging

neonatal lethality, complete penetrance ( J:91658 )

• all homozygous mutants become cyanotic and die within 24 hours of birth

cardiovascular system

abnormal artery morphology ( J:91658 )

abnormal fourth pharyngeal arch artery morphology ( J:91658 )

• at E10.5 the 4th arch arteries are reduced in size

abnormal sixth pharyngeal arch artery morphology ( J:91658 )

• at E10.5, the 6th arch arteries are extremely small or absent

• a mass of endothelial cells that fail to form a tube are seen near where the 6th arch arteries should be located

aberrant origin of the right subclavian artery ( J:91658 )

• the right subclavian artery arises from a more distal location than normal

right aortic arch ( J:91658 )

• some embryos display right-sided aortic arch

abnormal ascending aorta and coronary artery attachment ( J:91658 )

• the origin of the coronary artery is ectopic arising from the mid portion of the ascending aorta rather than from the coronary sinus

abnormal left subclavian artery morphology ( J:91658 )

• the left subclavian artery is closed or absent

abnormal intersomitic vessel morphology ( J:91658 )

• at E10.5 the intersomitic vasculature is disorganized with vessels crossing the out of the regions between somites

• this disorganization results in abnormal intercostal vessels in homozygous mutant neonates however the abnormalities are not as severe suggesting partial recovery occurs

increased angiogenesis ( J:91658 )

• increased vascularity is seen on the surface of the ventricles

absent fetal ductus arteriosus ( J:91658 )

• the ductus arteriosus is absent

abnormal vascular smooth muscle morphology ( J:91658 )

• the number of differentiated smooth muscle cells surrounding the 4 th and 6th arch arteries is reduced

persistent truncus arteriosus ( J:91658 )

• failure of septation of the cardiac outflow tract is seen at E12.5 and at birth

abnormal heart atrium morphology ( J:91658 )

• the atria are thin-walled

increased heart atrium size ( J:91658 )

homeostasis/metabolism

cyanosis ( J:91658 )

• all homozygous mutants become cyanotic shortly after birth

muscle

abnormal vascular smooth muscle morphology ( J:91658 )

• the number of differentiated smooth muscle cells surrounding the 4 th and 6th arch arteries is reduced

craniofacial

abnormal fourth pharyngeal arch artery morphology ( J:91658 )

• at E10.5 the 4th arch arteries are reduced in size

abnormal sixth pharyngeal arch artery morphology ( J:91658 )

• at E10.5, the 6th arch arteries are extremely small or absent

• a mass of endothelial cells that fail to form a tube are seen near where the 6th arch arteries should be located

embryo

abnormal fourth pharyngeal arch artery morphology ( J:91658 )

• at E10.5 the 4th arch arteries are reduced in size

abnormal sixth pharyngeal arch artery morphology ( J:91658 )

• at E10.5, the 6th arch arteries are extremely small or absent

• a mass of endothelial cells that fail to form a tube are seen near where the 6th arch arteries should be located