Phenotypes Associated with This Genotype

Genotype
MGI:5512643

• Allelic Composition: Dnah11^b2b2349Clo/Dnah11^b2b2349Clo
• Genetic Background: C57BL/6J-Dnah11^b2b2349Clo

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

Mutant 2249-002-LA exhibits situs inversus totalis with dextrocardia, inverted outflow, inverted lung and liver lobation, and dextrogastria

cardiovascular system

double outlet right ventricle ( J:175213 )

d-loop transposition of the great arteries ( 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 )

atrioventricular septal defect ( J:175213 )

growth/size/body

abnormal thoracic cavity morphology ( J:175213 )

heterotaxia ( J:175213 )

abdominal situs ambiguus ( J:175213 )

right pulmonary isomerism ( J:175213 )

situs inversus totalis ( J:175213 )

respiratory system

right pulmonary isomerism ( J:175213 )

abnormal lung lobe morphology ( J:175213 )

• inverted lobation

renal/urinary system

hydronephrosis ( J:175213 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Kartagener syndrome		DOID:0050144		J:175213
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