Phenotypes Associated with This Genotype

Genotype
MGI:3697608

• Allelic Composition: Acvr1^tm1Vk/Acvr1^tm1.1Vk; Tg(Tek-cre)12Flv/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3H * C57BL/6

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

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:103532 )

• only 10% of the expected 25% of mutants are recovered at E14.5

cardiovascular system

abnormal vascular endothelial cell differentiation ( J:103532 )

• endothelial cells (atrioventricular canal tissues) fail to transdifferentiate in vitro

abnormal cardiac epithelial to mesenchymal transition ( J:103532 )

• endothelial cells fail to populate the mesenchyme of the atrioventricular cushions

abnormal heart morphology ( J:103532 )

• at E14.5, surviving embryos show a range of cardiac defects

abnormal atrioventricular cushion morphology ( J:103532 )

• atrioventricular cushions are of variable shape and degree of fusion with one another, or with other septal structures

decreased atrioventricular cushion size ( J:103532 )

• endocardial cushions are smaller at E10; reduction in mesenchymal cell number is particularly evident in the superior cushion

• atrioventricular cushions are of variable size

abnormal atrioventricular valve development ( J:103532 )

• 11 of 17 E14.5 embryos have defective atrioventricular valve development

• outgrowth and formation of atrioventricular leaflets is variable

atrial septal defect ( J:103532 )

• the primary atrial foramen is still patent at E14.5 in some embryos, allowing blood to shunt between right and the left atria

abnormal atrioventricular septum morphology ( J:103532 )

• 11 of 17 E14.5 embryos have defective atrioventricular septation

ventricular septal defect ( J:103532 )

• 15 of 17 E14.5 embryos have a ventricular septal defect of varying severity, where the secondary ventricular foramen has not closed

cardiovascular shunt ( J:103532 )

• the primary atrial foramen is still patent at E14.5 in some embryos, allowing blood to shunt between right and the left atria

cellular

abnormal vascular endothelial cell differentiation ( J:103532 )

• endothelial cells (atrioventricular canal tissues) fail to transdifferentiate in vitro