Phenotypes Associated with This Genotype

Genotype
MGI:4849546

• Allelic Composition: Efna1^tm1Jinc/Efna1^tm1Jinc
• Genetic Background: involves: 129X1/SvJ * C57BL/6

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

cardiovascular system

abnormal cardiac epithelial to mesenchymal transition ( J:166527 )

• at E12.5, outflow tract endocardial cushions exhibit increased cell density with increased expression of mesenchymal markers indicating increased epithelial to mesenchyme transition compared to in wild-type mice

abnormal cardiac outflow tract development ( J:166527 )

• at E12.5, outflow tract endocardial cushions exhibit increased cell density with increased expression of mesenchymal markers compared to in wild-type mice

• however, mice exhibit normal neural crest migration into the outflow tract and cell proliferation and apoptosis in the outflow tract

thick mitral valve ( J:166527 )

• at P0 and 20 weeks of age

thick mitral valve cusps ( J:166527 )

• at P0

thin interventricular septum ( J:166527 )

• at end systole

abnormal heart left ventricle morphology ( J:166527 )

• at end systole, mice exhibit increased left ventricle internal dimension and left ventricular posterior wall thickness compared with wild-type mice

thick aortic valve ( J:166527 )

thick aortic valve cusps ( J:166527 )

• at P0

decreased cardiac muscle contractility ( J:166527 )

• ejection fraction and fractional shortening are reduced compared to in wild-type mice

• however, systemic blood pressure is normal

decreased heart rate ( J:166527 )

irregular heartbeat ( J:166527 )

• in 2 of 8 mice

muscle

decreased cardiac muscle contractility ( J:166527 )

• ejection fraction and fractional shortening are reduced compared to in wild-type mice

• however, systemic blood pressure is normal