Phenotypes associated with this allele

• Allele Symbol: Epha3^tm1Abn
• Allele Name: targeted mutation 1, Arthur Brown
• Allele ID: MGI:2681606
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Epha3^tm1Abn/Epha3^tm1Abn	involves: 129S1/Sv * 129S1/SvImJ	MGI:2681608

Genotype
MGI:2681608

hm1

• Allelic Composition: Epha3^tm1Abn/Epha3^tm1Abn
• Genetic Background: involves: 129S1/Sv * 129S1/SvImJ

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

mortality/aging

perinatal lethality, incomplete penetrance ( J:86478 , J:119874 )

• about 70-75% of homozygotes die within 48 hours of birth from pulmonary edema secondary to cardiac failure (J:86478)

• mice surviving perinatal period develop normally with no cardiac or other abnormalities and normal grip strength, motor column organization and spinal nerve projections (J:86478)

cardiovascular system

liver vascular congestion ( J:119874 )

• venous congestion

pulmonary vascular congestion ( J:119874 )

• venous congestion

venoocclusion ( J:119874 )

• venous congestion is seen in the lungs, liver, and other organs

abnormal cardiac epithelial to mesenchymal transition ( J:119874 )

• atrioventricular canal explants exhibit a reduced number of mesenchymal cells that invade a collagen gel compared to wild-type, indicating reduced epithelial-mesenchymal transition (EMT)

abnormal heart development ( J:119874 )

abnormal atrioventricular cushion morphology ( J:119874 )

• mutants exhibit delayed fusion of endocardial cushions; 75% of atrioventricular endocardial cushions are not yet fused at E11.5

• 78% of E12.5 embryos exhibit rounded atrioventricular endocardial cushion cells with few or no processes instead of the flatted cells with multiple processes seen in wild-type

• atrioventricular endocardial cushions exhibit increased apoptosis, however show no difference in proliferation

• stress fibers in endocardial cushions are reduced in size and disorganzied

atrioventricular cushion hypoplasia ( J:119874 )

• hypoplastic endocardial cushions; endocardial cushions are 28.8% smaller than wild-type at E12.5 due to a reduction in cells within the cushion

ostium primum atrial septal defect ( J:119874 )

• P0 mutants that become cyanotic have an atrial septal defect; the infolding representing the septum secundum is occasionally seen and the septum primum is either totally absent or is only a thin remnant

dilated heart atrium ( J:119874 )

• enlarged atria that are engorged with blood and dilated

abnormal atrioventricular septum morphology ( J:119874 )

• atrioventricular septum is thinner

abnormal cardiovascular system physiology ( J:119874 )

pulmonary alveolar hemorrhage ( J:119874 )

• neonatal lungs exhibit alveoli filled with blood, indicating exceedingly high cardiac filling pressures leading to capillary disruption

atrioventricular valve regurgitation ( J:119874 )

• atrioventricular orifices are enlarged and their valvular leaflets inadequate to close the right and left atrioventricular canals

decreased heart rate ( J:119874 )

• significant bradycardia at P0; average heart rate is 297 bpm compared to 396 bpm for wild-type

atrioventricular block ( J:119874 )

prolonged PR interval ( J:119874 )

• first-degree atrioventricular block as evidenced by prolonged PR interval

• however, mutants show no evidence of arrhythmia or of second- or third-degree AV conduction block

congestive heart failure ( J:86478 , J:119874 )

• cardiac failure in 70-75% of mutants (J:86478)

homeostasis/metabolism

cyanosis ( J:119874 )

• mutants quickly become cyanotic after birth

pulmonary edema ( J:86478 )

• seen in 70% of mutants

respiratory system

pulmonary alveolar hemorrhage ( J:119874 )

• neonatal lungs exhibit alveoli filled with blood, indicating exceedingly high cardiac filling pressures leading to capillary disruption

abnormal lung morphology ( J:119874 )

• neonatal lungs are poorly inflated

pulmonary vascular congestion ( J:119874 )

• venous congestion

pulmonary edema ( J:86478 )

• seen in 70% of mutants

behavior/neurological

lethargy ( J:119874 )

• mutants quickly become lethargic after birth

liver/biliary system

liver vascular congestion ( J:119874 )

• venous congestion