Phenotypes Associated with This Genotype

Genotype
MGI:5614941

• Allelic Composition: Ephb4^b2b2412Clo/Ephb4^b2b2412Clo
• Genetic Background: C57BL/6J-Ephb4^b2b2412Clo

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

Mutant 2412-003-2 (E15.5) presents with parallel outflow tracts suggesting overriding aorta. Also observed is premature constriction of the patent ductus.

cardiovascular system

abnormal pulmonary artery morphology ( J:175213 )

• hypoplastic pulmonary artery (PA)

abnormal aortic arch morphology ( J:175213 )

vascular ring ( J:175213 )

overriding aortic valve ( J:175213 )

perimembraneous ventricular septal defect ( J:175213 )

• perimembranous ventricular septal defect

renal/urinary system

kidney cyst ( J:175213 )

polycystic kidney ( J:175213 )

hydronephrosis ( J:175213 )

growth/size/body

kidney cyst ( J:175213 )

polycystic kidney ( J:175213 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cystic kidney disease		DOID:2975		J:175213