Phenotypes Associated with This Genotype

Genotype
MGI:3778526

• Allelic Composition: Dnah5^hlb612/Dnah5^hlb612
• Genetic Background: involves: C57BL/6J

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

Situs anomalies in Dnah5^hlb612/Dnah5^hlb612 mice

mortality/aging

lethality at weaning, complete penetrance ( J:130755 )

• mice that survive birth die between 3 and 4 weeks of age with normal or reversed body situs and domed heads indicative of hydrocephaly

perinatal lethality, incomplete penetrance ( J:130755 )

• mice with heterotaxia exhibit heart defects and die before or shortly after birth

growth/size/body

abnormal head morphology ( J:130755 )

• mice that survive birth die between 3 and 4 weeks of age with domed heads indicative of hydrocephaly

heterotaxia ( J:130755 )

• 40% of mice exhibit heterotaxia, 36% situs invertus and 24% situs solitus

• mice with heterotaxia exhibit heart defects and die before or shortly after birth

left atrial isomerism ( J:130755 )

• in one mouse

right atrial isomerism ( J:130755 )

• in some mice

left pulmonary isomerism ( J:130755 )

• mice exhibit varying degrees of lung and bronchial tree left isomerism

situs inversus ( J:130755 )

• 36% of mice exhibit situs inversus

cardiovascular system

abnormal aortic arch morphology ( J:130755 )

• in some mice

interrupted aortic arch ( J:130755 )

• in one mouse

abnormal inferior vena cava morphology ( J:130755 )

• inferior vena cava (IVC) abnormalities are observed in some mice including azygos continuation, interruption and duplication of the IVC

abnormal heart morphology ( J:130755 )

• mice exhibit a range of cardiac defects at varying degrees of penetrance including tetralogy of Fallot, transposition of the great arteries, a common atrioventricular canal, dextro- or meso-cardia, a common atrium, double outlet right ventricle, and septal defects

abnormal heart development ( J:130755 )

• some mice exhibit L ventricular loop with or without superior-inferior positioning of the ventricles

• some mice exhibit tetralogy of Fallot

• some mice exhibit a concordant vein and artery alignment in the great arteries

double outlet right ventricle ( J:130755 )

• in some mice

transposition of great arteries ( J:130755 )

• in some mice

common atrioventricular valve ( J:130755 )

• some mice exhibit a single atrioventricular valve of mitral morphology

left atrial isomerism ( J:130755 )

• in one mouse

right atrial isomerism ( J:130755 )

• in some mice

common atrium ( J:130755 )

• some mice exhibit a common atrium

ostium secundum atrial septal defect ( J:130755 )

• some mice exhibit secundum atrial septal defects

dextrocardia ( J:130755 )

• in some mice

mesocardia ( J:130755 )

• in some mice

superior-inferior ventricles ( J:130755 )

• in some mice

atrioventricular septal defect ( J:130755 )

• some mice exhibit a common or unbalanced atrioventricular canal committed to the right or left ventricle

ventricular septal defect ( J:130755 )

• in some mice

respiratory system

abnormal respiratory motile cilium morphology ( J:130755 )

• mice exhibit a wide range of tracheal cilia disorganization

• mice exhibit reduced numbers of outer dynein arms in their tracheal cilia compared to in wild-type mice

abnormal respiratory motile cilium physiology ( J:130755 )

• tracheal cilia are immotile or slow and dyskinetic

• displacement of fluorescent beads deposited above the epithelia is reduced in velocity and directionality compared to in wild-type mice

left pulmonary isomerism ( J:130755 )

• mice exhibit varying degrees of lung and bronchial tree left isomerism

digestive/alimentary system

abnormal digestive organ placement ( J:130755 )

• in some mice the pancreas or the stomach are mal-positioned along the midline or the right side

hematopoietic system

abnormal spleen morphology ( J:130755 )

• in some mice the spleen is mal-positioned

absent spleen ( J:130755 )

• in some mice

nervous system

hydrocephaly ( J:130755 )

• mice that survive birth die between 3 and 4 weeks of age with domed heads indicative of hydrocephaly

liver/biliary system

abnormal liver morphology ( J:130755 )

• some mice exhibit a symmetric bilobed liver

immune system

abnormal spleen morphology ( J:130755 )

• in some mice the spleen is mal-positioned

absent spleen ( J:130755 )

• in some mice

cellular

abnormal respiratory motile cilium morphology ( J:130755 )

• mice exhibit a wide range of tracheal cilia disorganization

• mice exhibit reduced numbers of outer dynein arms in their tracheal cilia compared to in wild-type mice

abnormal respiratory motile cilium physiology ( J:130755 )

• tracheal cilia are immotile or slow and dyskinetic

• displacement of fluorescent beads deposited above the epithelia is reduced in velocity and directionality compared to in wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
primary ciliary dyskinesia 3		DOID:0110599	OMIM:608644	J:130755
tetralogy of Fallot		DOID:6419	OMIM:187500	J:130755