Phenotypes Associated with This Genotype

Genotype
MGI:5620189

• Allelic Composition: b2b2696Clo/b2b2696Clo
• Genetic Background: C57BL/6J-b2b2696Clo

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

Mutant (E14.5) shows dextrocardia with abnormal outflow tract arrangement with DORV as seen by ECM hisopathology.

cardiovascular system

abnormal inferior vena cava morphology ( J:175213 )

double outlet right ventricle ( J:175213 )

total anomalous pulmonary venous connection ( J:175213 )

dextrocardia ( J:175213 )

atrioventricular septal defect ( J:175213 )

muscular ventricular septal defect ( J:175213 )

cardiac hypertrophy ( J:175213 )

• Excessive myocardial trabeculation or noncompaction

growth/size/body

cardiac hypertrophy ( J:175213 )

• Excessive myocardial trabeculation or noncompaction

heterotaxia ( J:175213 )

abdominal situs ambiguus ( J:175213 )

digestive/alimentary system

abnormal intestine morphology ( J:175213 )

• Intestinal malrotation

hematopoietic system

absent spleen ( J:175213 )

immune system

absent spleen ( J:175213 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
DiGeorge syndrome		DOID:11198	OMIM:188400	J:175213
visceral heterotaxy		DOID:0050545	OMIM:306955 OMIM:605376 OMIM:606325 OMIM:613751 OMIM:614779 OMIM:PS306955	J:175213