Phenotypes Associated with This Genotype

Genotype
MGI:5296754

• Allelic Composition: Dnah5^b2b002Clo/Dnah5^b2b002Clo
• Genetic Background: C57BL/6J-Dnah5^b2b002Clo

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

Mutant 002-044-NG exhibits heterotaxy with dextrocardia and abnormal position of the great arteries which is diagnosed as DORV by EFIC imaging

cardiovascular system

abnormal atrioventricular cushion morphology ( J:175213 )

double outlet right ventricle ( J:175213 )

abnormal heart atrium and ventricle connection ( J:175213 )

common atrioventricular valve ( J:175213 )

biventricular, ambiguous atrioventricular connection ( J:175213 )

biventricular, discordant atrioventricular connection ( J:175213 )

dextrocardia ( J:175213 )

superior-inferior ventricles ( J:175213 )

growth/size/body

heterotaxia ( J:175213 )

abdominal situs inversus ( J:175213 )

situs inversus totalis ( J:175213 )

situs inversus with levocardia ( J:175213 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Kartagener syndrome		DOID:0050144		J:175213
primary ciliary dyskinesia 3		DOID:0110599	OMIM:608644	J:175213
visceral heterotaxy		DOID:0050545	OMIM:306955 OMIM:605376 OMIM:606325 OMIM:613751 OMIM:614779 OMIM:PS306955	J:175213