Phenotypes Associated with This Genotype

Genotype
MGI:5285617

• Allelic Composition: Dnah5^b2b016Clo/Dnah5^b2b016Clo
• Genetic Background: C57BL/6J-Dnah5^b2b016Clo

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

Mutant 016-030-LA presents with situs inversus totalis with dextrocardia, dextrogastria, and inverted lung and liver lobation

cardiovascular system

abnormal inferior vena cava morphology ( J:175213 )

double outlet right ventricle ( J:175213 )

dextrocardia ( J:175213 )

growth/size/body

right-sided stomach ( J:175213 )

lung situs inversus ( J:175213 )

• inverted lung lobation

situs inversus totalis ( J:175213 )

renal/urinary system

hydronephrosis ( J:175213 )

duplex kidney ( J:175213 )

respiratory system

abnormal respiratory motile cilium physiology ( J:175213 )

• tracheal airway epithelium shows slow ciliary motility, with some regions of immotility

lung situs inversus ( J:175213 )

• inverted lung lobation

cellular

abnormal respiratory motile cilium physiology ( J:175213 )

• tracheal airway epithelium shows slow ciliary motility, with some regions of immotility

digestive/alimentary system

right-sided stomach ( J:175213 )

liver/biliary system

abnormal liver morphology ( J:175213 )

• inverted liver lobation

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