Phenotypes Associated with This Genotype

Genotype
MGI:5312335

• Allelic Composition: b2b386Clo/b2b386Clo
• Genetic Background: C57BL/6J-b2b386Clo

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

Mutant 386-005-1 presents with an anterior aorta which is diagnosed as DORV by EFIC imaging

cardiovascular system

abnormal aortic arch morphology ( J:175213 )

interrupted aortic arch ( J:175213 )

coronary fistula ( J:175213 )

abnormal inferior vena cava morphology ( J:175213 )

• dual/bilateral inferior vena cava (IVC)

abnormal myocardial trabeculae morphology ( J:175213 )

• Excessive myocardial trabeculation or noncompaction

double outlet right ventricle ( J:175213 )

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

common atrium ( J:175213 )

atrioventricular septal defect ( J:175213 )

ventricular septal defect ( J:175213 )

respiratory system

left pulmonary isomerism ( J:175213 )

• Left bronchial isomerism

muscle

abnormal myocardial trabeculae morphology ( J:175213 )

• Excessive myocardial trabeculation or noncompaction

hematopoietic system

absent spleen ( J:175213 )

skeleton

micrognathia ( J:175213 )

abnormal vertebral column morphology ( J:175213 )

• malaligned sternal vertebra

craniofacial

micrognathia ( J:175213 )

cleft palate ( J:175213 )

liver/biliary system

abnormal liver morphology ( J:175213 )

• liver isomerism

renal/urinary system

abnormal kidney morphology ( J:175213 )

• duplex and hydronephrotic kidneys

hydronephrosis ( J:175213 )

digestive/alimentary system

cleft palate ( J:175213 )

immune system

absent spleen ( J:175213 )

growth/size/body

cleft palate ( J:175213 )

heterotaxia ( J:175213 )

abdominal situs ambiguus ( J:175213 )

left pulmonary isomerism ( J:175213 )

• Left bronchial isomerism

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