Phenotypes Associated with This Genotype

Genotype
MGI:3815024

• Allelic Composition: Ece1^tm1Reh/Ece1^tm1Reh
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

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

Cardiac defects in Ece1^tm1Reh/Ece1^tm1Reh and Ece1^tm1Reh/Ece1^tm1Reh Ece2^tm1Ywa/Ece2^tm1Ywa embryos

cardiovascular system

abnormal heart and great artery attachment ( J:62261 )

• malalignment of great vessels and ventricles; the alignment between aortic and pulmonary vessel outflows remains in a spiral position as in wild-type, but the aortic valve and outflow shift rostrally and to the right so that the two valves appear in the same plane

persistent truncus arteriosus ( J:62261 )

• seen in one of ten mutants

double outlet right ventricle ( J:62261 )

• seen in a few mutants

overriding aortic valve ( J:62261 )

• seen in many mutants

perimembraneous ventricular septal defect ( J:62261 )

• most mutants show perimembranous ventricular septal defect

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
double outlet right ventricle		DOID:6406	OMIM:217095	J:62261