Phenotypes Associated with This Genotype

Genotype
MGI:2172625

• Allelic Composition: Dnah11^iv/Dnah11^iv
• Genetic Background: involves: C3H

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

embryo

abnormal motile primary cilium morphology ( J:109561 )

• the nodal cilia are rigid and appear frozen

absent nodal flow ( J:109561 )

• nodal cilia seldom move and beads added to the extraembryonic fluid fail to display any net directional movement indicating a lack of nodal flow

growth/size/body

heterotaxia ( J:212 )

• situs inversus with incomplete penetrance and variable expressivity can yield complete situs inversus of thoracic and abdominal viscera and associated blood vessels, incomplete situs inversus, anomalous relationship of the postcaval and azygous veins, anomalous positioning of the hepatic portal vein, flatter more elongated spleen, and diminished or altered lobulation of the liver or lung

situs inversus ( J:212 )

• about 50 per cent of homozygotes showed left-right transposition of stomach and abdominal viscera

• about 50% of all the homozygotes showed discordance in asymmetry between the stomach and the major abdominal and thoracic veins, the discordance occurring with similar frequency in mice with normal and reversed viscera

• Background Sensitivity: penetrance is 71%

cellular

abnormal motile primary cilium morphology ( J:109561 )

• the nodal cilia are rigid and appear frozen

absent nodal flow ( J:109561 )

• nodal cilia seldom move and beads added to the extraembryonic fluid fail to display any net directional movement indicating a lack of nodal flow

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
primary ciliary dyskinesia 7		DOID:0110605	OMIM:611884	J:212