Phenotypes Associated with This Genotype

Genotype
MGI:3037339

• Allelic Composition: Ece1^tm1Reh/Ece1^tm1Reh; Ece2^tm1Ywa/Ece2^tm1Ywa
• 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

mortality/aging

prenatal lethality, incomplete penetrance ( J:62261 )

• the number of alive double homozygous mutant embryos decreased after E12.5

• the ratio of double homozygous embryos that survived until birth tended to be less than that of single Ece1 homozygous mutant embryos, but this difference did not reach statistical significance

cardiovascular system

abnormal cardiovascular system morphology ( J:62261 )

• double homozygous mutant embryos developed cardiac abnormalities that were broader and more severe than those of single Ece1 homozygous mutant embryos

persistent truncus arteriosus ( J:62261 )

• cardiac abnormalities included total or localized defects of the aorticopulmonary septum, which resulted in persistent truncus arteriosus or aorticopulmonary window

failure of atrioventricular cushion closure ( J:62261 )

• in severe cases, the endocardial cushion was hypoplastic and did not form atrioventricular valves at all

double outlet right ventricle ( J:62261 )

• seen in more than half of the mutants

perimembraneous ventricular septal defect ( J:62261 )

abnormal heart valve morphology ( J:62261 )

• double homozygous mutant embryos displayed defects in spiraling of the conotruncal ridges and aorticopulmonary septum; these resulted in a parallel position of the aortic and pulmonary outflow tracts without crossing over each other, with the two valves observed side by side on the same transverse plane

abnormal atrioventricular valve morphology ( J:62261 )

• atrioventricular valves opened toward a ventricular septal defect but not to the left ventricle

abnormal atrioventricular valve development ( J:62261 )

• double homozygous mutant embryos frequently displayed abnormal atrioventricular valve formation, a phenotype never observed in single Ece1 homozygous mutant embryos

craniofacial

mandible hypoplasia ( J:62261 )

• near-term or E20.0 double homozygous mutant embryos had a hypoplastic mandible

abnormal outer ear morphology ( J:62261 )

• near-term or E20.0 double homozygous mutant embryos had hypoplastic pinnae

embryo

embryo phenotype ( J:62261 )

N • double E16.0-E20.0 homozygous mutant embryos displayed defects in multiple neural crest-derived tissues, which were identical to those observed in single Ece1 homozygous mutant embryos

N • at E12.5, the endothelin-1/endothelin-2 levels in whole double homozygous mutant embryos did not differ significantly from those of single Ece1 homozygous mutant embryos

hearing/vestibular/ear

abnormal outer ear morphology ( J:62261 )

• near-term or E20.0 double homozygous mutant embryos had hypoplastic pinnae

skeleton

abnormal skeleton morphology ( J:62261 )

• near-term or E20.0 double homozygous mutant embryos displayed a shrunken anterior neck

mandible hypoplasia ( J:62261 )

• near-term or E20.0 double homozygous mutant embryos had a hypoplastic mandible

growth/size/body

abnormal outer ear morphology ( J:62261 )

• near-term or E20.0 double homozygous mutant embryos had hypoplastic pinnae

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