Phenotypes associated with this allele

• Allele Symbol: Plxnd1^em1Zho
• Allele Name: endonuclease-mediated mutation 1, Zhou Zhou
• Allele ID: MGI:7425339
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Plxnd1^em1Zho/Plxnd1^em1Zho	C57BL/6-Plxnd1^em1Zho	MGI:7544908
ht2	Plxnd1^em1Zho/Plxnd1^+	C57BL/6-Plxnd1^em1Zho	MGI:7544915

Genotype
MGI:7544908

hm1

• Allelic Composition: Plxnd1^em1Zho/Plxnd1^em1Zho
• Genetic Background: C57BL/6-Plxnd1^em1Zho

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

mortality/aging

prenatal lethality, incomplete penetrance ( J:326461 )

• most embryos died in utero

growth/size/body

decreased fetal size ( J:326461 )

• at E16.5, fetal stature was shorter than normal

cardiovascular system

increased capillary density ( J:326461 )

• CD31 immunostaining showed increased capillary density in lung sections

abnormal lung vasculature morphology ( J:326461 )

• CD31 immunostaining showed increased capillary density in lung sections

• ectopic pulmonary venules were found in the center of the lung lobule surrounding the bronchoarterial bundles, instead of the periphery of the lobule within the interlobular septa

• however, anomalous pulmonary venous return (APVR) was NOT observed

increased angiogenesis ( J:326461 )

• in a vessel-like formation assay, pulmonary vascular endothelial cells seeded on matrigel-coated wells showed a significantly higher number of tubes formed after 3 h than wild-type cells, indicating enhanced vessel formation

abnormal vascular endothelial cell migration ( J:326461 )

• in a scratch wound assay, pulmonary vascular endothelial cells isolated from E18.5 embryos migrated faster than wild-type cells; both total distance and maximum displacement of cell migration were significantly higher than in wild-type cells

abnormal pulmonary vein morphology ( J:326461 )

• 10 of 27 homozygotes with abnormal coronary sinus (CS) connection had the pulmonary vein opening located between the CS and atrial septum

abnormal ventricle myocardium morphology ( J:326461 )

• all (27 of 27) homozygotes exhibited severe noncompaction of ventricular myocardium (NVM)

thin myocardium ( J:326461 )

• all (27 of 27) homozygotes exhibited a thin myocardium

persistent truncus arteriosus ( J:326461 )

• nearly all (22 of 27) homozygotes showed persistent truncus arteriosus

abnormal coronary sinus connection ( J:326461 )

• 10 of 27 homozygotes had the coronary sinuses (CSs) incorrectly drained into the left atrium, unlike in wild-type controls where the CSs entered the right atrium

atrial septal defect ( J:326461 )

• 10 of 27 homozygotes exhibited incomplete atrial septal closure (ASD)

ventricular septal defect ( J:326461 )

• nearly all (22 of 27) homozygotes had ventricular septal defects (VSDs)

subcutaneous hemorrhage ( J:326461 )

• at E16.5, embryos exhibited variable degrees of subcutaneous hemorrhage

respiratory system

abnormal lung vasculature morphology ( J:326461 )

• CD31 immunostaining showed increased capillary density in lung sections

• ectopic pulmonary venules were found in the center of the lung lobule surrounding the bronchoarterial bundles, instead of the periphery of the lobule within the interlobular septa

• however, anomalous pulmonary venous return (APVR) was NOT observed

abnormal lung interstitium morphology ( J:326461 )

• at E18.5, lungs showed thickened saccular interstitium

atelectasis ( J:326461 )

• at E18.5, after simulating breath, lung tissues appeared whitish and immature and had large atelectatic regions, accounting for 1/4 to 1/3 of the entire lung

cellular

abnormal vascular endothelial cell migration ( J:326461 )

• in a scratch wound assay, pulmonary vascular endothelial cells isolated from E18.5 embryos migrated faster than wild-type cells; both total distance and maximum displacement of cell migration were significantly higher than in wild-type cells

homeostasis/metabolism

enhanced wound healing ( J:326461 )

• in a scratch wound assay, isolated pulmonary vascular endothelial cells migrated more rapidly toward the cell-free area leading to a significantly smaller open wound area after 12 h of wounding than in wild-type controls

integument

subcutaneous hemorrhage ( J:326461 )

• at E16.5, embryos exhibited variable degrees of subcutaneous hemorrhage

muscle

abnormal ventricle myocardium morphology ( J:326461 )

• all (27 of 27) homozygotes exhibited severe noncompaction of ventricular myocardium (NVM)

thin myocardium ( J:326461 )

• all (27 of 27) homozygotes exhibited a thin myocardium

Genotype
MGI:7544915

ht2

• Allelic Composition: Plxnd1^em1Zho/Plxnd1⁺
• Genetic Background: C57BL/6-Plxnd1^em1Zho

cardiovascular system

abnormal ventricle myocardium morphology ( J:326461 )

• two of 31 heterozygotes exhibited noncompaction of ventricular myocardium (NVM)

thin myocardium ( J:326461 )

• two of 31 heterozygotes exhibited a thin myocardium

atrial septal defect ( J:326461 )

• two of 31 heterozygotes had an ASD

ventricular septal defect ( J:326461 )

• one of 31 heterozygotes had a VSD

muscle

abnormal ventricle myocardium morphology ( J:326461 )

• two of 31 heterozygotes exhibited noncompaction of ventricular myocardium (NVM)

thin myocardium ( J:326461 )

• two of 31 heterozygotes exhibited a thin myocardium