Phenotypes Associated with This Genotype

Genotype
MGI:5555837

• Allelic Composition: Ccdc39^b2b2025.1Clo/Ccdc39^b2b2025.1Clo
• Genetic Background: C57BL/6J-Ccdc39^b2b2025.1Clo

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

Mutant 2025-003-LA shows heterotaxy with dextrocardia with transposition of the great arteries (TGA), left liver isomerism (2R/2L), and normal lung lobation (3R/2L)

cardiovascular system

abnormal aortic arch morphology ( J:175213 )

interrupted aortic arch ( J:175213 )

vascular ring ( J:175213 )

abnormal inferior vena cava morphology ( J:175213 )

dual inferior vena cava ( J:175213 )

double outlet right ventricle ( J:175213 )

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

double outlet right ventricle, Taussig bing type ( J:175213 )

overriding aortic valve ( J:175213 )

l-loop transposition of the great arteries ( J:175213 )

• L-loop transposition of the great arteries

left atrial isomerism ( J:175213 )

right atrial isomerism ( J:175213 )

dextrocardia ( J:175213 )

superior-inferior ventricles ( J:175213 )

atrioventricular septal defect ( J:175213 )

perimembraneous ventricular septal defect ( J:175213 )

muscular ventricular septal defect ( J:175213 )

growth/size/body

heterotaxia ( J:175213 )

left atrial isomerism ( J:175213 )

right atrial isomerism ( J:175213 )

right-sided stomach ( J:175213 )

left pulmonary isomerism ( J:175213 )

• left bronchial isomerism

• left lung isomerism

respiratory system

left pulmonary isomerism ( J:175213 )

• left bronchial isomerism

• left lung isomerism

digestive/alimentary system

right-sided stomach ( J:175213 )

hematopoietic system

spleen hypoplasia ( J:175213 )

absent spleen ( J:175213 )

immune system

spleen hypoplasia ( J:175213 )

absent spleen ( J:175213 )

liver/biliary system

abnormal liver morphology ( J:175213 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
primary ciliary dyskinesia 14		DOID:0110598	OMIM:613807	J:175213
visceral heterotaxy		DOID:0050545	OMIM:306955 OMIM:605376 OMIM:606325 OMIM:613751 OMIM:614779 OMIM:PS306955	J:175213