Phenotypes Associated with This Genotype

Genotype
MGI:5313509

• Allelic Composition: Cc2d2a^b2b1035Clo/Cc2d2a^b2b1035Clo
• Genetic Background: C57BL/6J-Cc2d2a^b2b1035Clo

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

Heterotaxy indicated by left lung isomerism with left sided IVC and TGA (observed by EFIC imaging)

cardiovascular system

persistent truncus arteriosus ( J:175213 )

double outlet right ventricle ( J:175213 )

double outlet right ventricle with atrioventricular septal defect ( J:175213 )

tricuspid valve atresia ( J:175213 )

biventricular, discordant atrioventricular connection ( J:175213 )

common atrium ( J:175213 )

superior-inferior ventricles ( J:175213 )

atrioventricular septal defect ( J:175213 )

complete atrioventricular septal defect ( J:175213 )

ventricular septal defect ( J:175213 )

muscular ventricular septal defect ( J:175213 )

pulmonary valve atresia ( J:175213 )

craniofacial

cleft palate ( J:175213 )

digestive/alimentary system

cleft palate ( J:175213 )

growth/size/body

cleft palate ( J:175213 )

kidney cyst ( J:175213 )

polycystic kidney ( J:175213 )

prenatal growth retardation ( J:175213 )

heterotaxia ( J:175213 )

renal/urinary system

kidney cyst ( J:175213 )

polycystic kidney ( J:175213 )

duplex kidney ( J:175213 )

vision/eye

microphthalmia ( J:175213 )

anophthalmia ( J:175213 )

limbs/digits/tail

preaxial polydactyly ( J:175213 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
visceral heterotaxy		DOID:0050545	OMIM:306955 OMIM:605376 OMIM:606325 OMIM:613751 OMIM:614779 OMIM:PS306955	J:175213