Phenotypes Associated with This Genotype

Genotype
MGI:3789048

• Allelic Composition: Hey1^tm1Gess/Hey1^tm1Gess; Heyl^tm1Gess/Heyl^tm1Gess
• Genetic Background: either: B6.129-Hey1^tm1Gess Heyl^tm1Gess or (involves: 129 * C57BL/6)

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:133699 )

• Background Sensitivity: on a mixed background 89% survive to weaning compared to less than 5% survival on a congenic C57BL/6 background

• most mice that die, fail to thrive and die within a few days of birth

cardiovascular system

abnormal cardiac epithelial to mesenchymal transition ( J:133699 )

• atrioventricular canal explants from E9.5 embryos have a slight reduction in the number of outgrowing cells and a strong reduction in the number of fully transformed, elongated mesenchymal cells indicating impaired epithelial to mesenchymal transition

• impairment is less severe than in Notch1^tm2Agt homozygotes

abnormal conotruncal ridge morphology ( J:133699 )

• outflow tract cushion sizes are normal but cell density is reduced by 37%, compared to controls

abnormal atrioventricular cushion morphology ( J:133699 )

• at E11.5 atrioventricular cushion sizes are normal but cell density is reduced by 31% compared to controls

abnormal atrioventricular valve morphology ( J:133699 )

• Background Sensitivity: by E15.5, dysplastic atrioventricular valves are present in 13% of mice on a mixed background compared to 53% of mice on a congenic C57BL/6 background

• dysplasia is more pronounced in newborns

perimembraneous ventricular septal defect ( J:133699 )

• Background Sensitivity: incidence of ventricular septal defects is decreased on a mixed background (21%) compared to mice on a congenic C57BL/6 background (82%)

• at E13.5 20 of 25 mice had failed to closed the ventricular septum as a result of absence of the membranous septum

• however, the muscular portion of the septum is unaffected

pulmonary valve stenosis ( J:133699 )

• thickened valves are prone to insufficiency and blood flow obstruction

thick pulmonary valve ( J:133699 )

• pronounced thickening

increased heart ventricle size ( J:133699 )

• ventricular hypertrophy