Phenotypes Associated with This Genotype

Genotype
MGI:5314017

• Allelic Composition: Dnah5^b2b1154Clo/Dnah5^b2b1154Clo
• Genetic Background: C57BL/6J-Dnah5^b2b1154Clo

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

Mutant 1154-007-1 (E15.5) exhibits parallel outflow tracts which is diagnosed as DORV by EFIC imaging

cardiovascular system

double outlet right ventricle ( J:175213 )

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

dextrocardia ( J:175213 )

atrioventricular septal defect ( J:175213 )

abnormal cardiovascular system physiology ( J:175213 )

• congenital heart disease

growth/size/body

heterotaxia ( J:175213 )

abdominal situs ambiguus ( J:175213 )

left pulmonary isomerism ( J:175213 )

• left bronchial isomerism

situs inversus totalis ( J:175213 )

respiratory system

immotile respiratory cilia ( J:175213 )

left pulmonary isomerism ( J:175213 )

• left bronchial isomerism

cellular

immotile respiratory cilia ( 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