Phenotypes Associated with This Genotype

Genotype
MGI:5442123

• Allelic Composition: Cntrl^b2b1468.1Clo/Cntrl^b2b1468.1Clo
• Genetic Background: C57BL/6J-Cntrl^b2b1468.1Clo

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

Mutant 1468-003-4 (E15.5) displays right aortic arch, hypoplastic transverse arch, and malpositioning of the great arteries which is diagnosed as double outlet right ventricle (DORV) by ECM histopathology.

cardiovascular system

pulmonary artery stenosis ( J:175213 )

double outlet right ventricle ( J:175213 )

tricuspid valve stenosis ( J:175213 )

atrial septal defect ( J:175213 )

ventricular septal defect ( J:175213 )

heart right ventricle hypoplasia ( J:175213 )

renal/urinary system

kidney cyst ( J:175213 )

polycystic kidney ( J:175213 )

dilated kidney collecting duct ( J:175213 )

hydronephrosis ( J:175213 )

hydroureter ( J:175213 )

growth/size/body

kidney cyst ( J:175213 )

polycystic kidney ( J:175213 )

decreased fetal size ( J:175213 )

vision/eye

microphthalmia ( J:175213 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
nephronophthisis		DOID:12712	OMIM:PS256100	J:175213