Phenotypes Associated with This Genotype

Genotype
MGI:5312336

• Allelic Composition: Dnah11^b2b598Clo/Dnah11^b2b598Clo
• Genetic Background: C57BL/6J-Dnah11^b2b598Clo

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

Mutant 598-014-LV presents with situs inversus totalis including dextrocardia

growth/size/body

polycystic kidney ( J:175213 )

heterotaxia ( J:175213 )

abdominal situs ambiguus ( J:175213 )

left pulmonary isomerism ( J:175213 )

situs inversus totalis ( J:175213 )

renal/urinary system

abnormal kidney morphology ( J:175213 )

polycystic kidney ( J:175213 )

hydronephrosis ( J:175213 )

respiratory system

abnormal respiratory motile cilium physiology ( J:175213 )

• hyperkinetic/dyskinetic airway cilia

left pulmonary isomerism ( J:175213 )

cellular

abnormal respiratory motile cilium physiology ( J:175213 )

• hyperkinetic/dyskinetic airway cilia

cardiovascular system

dextrocardia ( J:175213 )

ventricular septal defect ( J:175213 )

muscular ventricular septal defect ( 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