Mouse Genome Informatics
hm
    Dnah5hlb612/Dnah5hlb612
involves: C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       

Situs anomalies in Dnah5hlb612/Dnah5hlb612 mice

mortality/aging
• mice that survive birth die between 3 and 4 weeks of age with normal or reversed body situs and domed heads indicative of hydrocephaly
• mice with heterotaxia exhibit heart defects and die before or shortly after birth

growth/size/body
• mice that survive birth die between 3 and 4 weeks of age with domed heads indicative of hydrocephaly
• 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
• in one mouse
• in some mice
• mice exhibit varying degrees of lung and bronchial tree left isomerism
• 36% of mice exhibit situs inversus

cardiovascular system
• in one mouse
• inferior vena cava (IVC) abnormalities are observed in some mice including azygos continuation, interruption and duplication of the IVC
• 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
• some mice exhibit a concordant vein and artery alignment in the great arteries
• 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 single atrioventricular valve of mitral morphology
• some mice exhibit a common atrium
• some mice exhibit secundum atrial septal defects
• in one mouse
• in some mice
• in some mice
• in some mice
• some mice exhibit a common or unbalanced atrioventricular canal committed to the right or left ventricle
• in some mice

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

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

hematopoietic system
• in some mice the spleen is mal-positioned
• in some mice

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

liver/biliary system
• some mice exhibit a symmetric bilobed liver

immune system
• in some mice the spleen is mal-positioned
• in some mice

cellular
• 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
• 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
OMIM IDRef(s)
Ciliary Dyskinesia, Primary, 3; CILD3 608644 J:130755
Tetralogy of Fallot; TOF 187500 J:130755