Phenotypes Associated with This Genotype

Genotype
MGI:5317649

• Allelic Composition: Dnah11^b2b1279Clo/Dnah11^b2b1279Clo
• Genetic Background: C57BL/6J-Dnah11^b2b1279Clo

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

Mutant 1279-006-1 (E16.5) shows malalignment of the great arteries, which is diagnosed as D-TGA by EFIC imaging

cardiovascular system

abnormal myocardial trabeculae morphology ( J:175213 )

double outlet right ventricle ( J:175213 )

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

abnormal mitral valve morphology ( J:175213 )

dextrocardia ( J:175213 )

atrioventricular septal defect ( J:175213 )

ventricular septal defect ( J:175213 )

growth/size/body

heterotaxia ( J:175213 )

abdominal situs ambiguus ( J:175213 )

left pulmonary isomerism ( J:175213 )

situs inversus totalis ( J:175213 )

respiratory system

abnormal respiratory motile cilium physiology ( J:175213 )

• Airway cilia show a wide range of motion defects including immotility, hyperkinetic beat, dyskinetic and slow cilia motility

left pulmonary isomerism ( J:175213 )

cellular

abnormal respiratory motile cilium physiology ( J:175213 )

• Airway cilia show a wide range of motion defects including immotility, hyperkinetic beat, dyskinetic and slow cilia motility

craniofacial

micrognathia ( J:175213 )

muscle

abnormal myocardial trabeculae morphology ( J:175213 )

skeleton

micrognathia ( J:175213 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
primary ciliary dyskinesia 7		DOID:0110605	OMIM:611884	J:175213
visceral heterotaxy		DOID:0050545	OMIM:306955 OMIM:605376 OMIM:606325 OMIM:613751 OMIM:614779 OMIM:PS306955	J:175213