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Phenotypes Associated with This Genotype
Genotype
MGI:3778526
Allelic
Composition
Dnah5hlb612/Dnah5hlb612
Genetic
Background
involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dnah5hlb612 mutation (1 available); any Dnah5 mutation (13 available)
phenotype observed in females
phenotype observed in males
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 (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 (J:130755)
• mice with heterotaxia exhibit heart defects and die before or shortly after birth (J:130755)
• mice with heterotaxia exhibit heart defects and die before or shortly after birth (J:130755)

growth/size/body
• mice that survive birth die between 3 and 4 weeks of age with domed heads indicative of hydrocephaly (J:130755)
• mice that survive birth die between 3 and 4 weeks of age with domed heads indicative of hydrocephaly (J:130755)
• 40% of mice exhibit heterotaxia, 36% situs invertus and 24% situs solitus (J:130755)
• mice with heterotaxia exhibit heart defects and die before or shortly after birth (J:130755)
• 40% of mice exhibit heterotaxia, 36% situs invertus and 24% situs solitus (J:130755)
• mice with heterotaxia exhibit heart defects and die before or shortly after birth (J:130755)
• in one mouse (J:130755)
• in one mouse (J:130755)
• in some mice (J:130755)
• in some mice (J:130755)
• mice exhibit varying degrees of lung and bronchial tree left isomerism (J:130755)
• mice exhibit varying degrees of lung and bronchial tree left isomerism (J:130755)
• 36% of mice exhibit situs inversus (J:130755)
• 36% of mice exhibit situs inversus (J:130755)

cardiovascular system
• in some mice (J:130755)
• in some mice (J:130755)
• in one mouse (J:130755)
• in one mouse (J:130755)
• inferior vena cava (IVC) abnormalities are observed in some mice including azygos continuation, interruption and duplication of the IVC (J:130755)
• inferior vena cava (IVC) abnormalities are observed in some mice including azygos continuation, interruption and duplication of the IVC (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 (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 (J:130755)
• some mice exhibit L ventricular loop with or without superior-inferior positioning of the ventricles (J:130755)
• some mice exhibit tetralogy of Fallot (J:130755)
• some mice exhibit a concordant vein and artery alignment in the great arteries (J:130755)
• some mice exhibit L ventricular loop with or without superior-inferior positioning of the ventricles (J:130755)
• some mice exhibit tetralogy of Fallot (J:130755)
• some mice exhibit a concordant vein and artery alignment in the great arteries (J:130755)
• in some mice (J:130755)
• in some mice (J:130755)
• in some mice (J:130755)
• in some mice (J:130755)
• some mice exhibit a single atrioventricular valve of mitral morphology (J:130755)
• some mice exhibit a single atrioventricular valve of mitral morphology (J:130755)
• some mice exhibit a common atrium (J:130755)
• some mice exhibit a common atrium (J:130755)
• some mice exhibit secundum atrial septal defects (J:130755)
• some mice exhibit secundum atrial septal defects (J:130755)
• in one mouse (J:130755)
• in one mouse (J:130755)
• in some mice (J:130755)
• in some mice (J:130755)
• in some mice (J:130755)
• in some mice (J:130755)
• in some mice (J:130755)
• in some mice (J:130755)
• in some mice (J:130755)
• in some mice (J:130755)
• some mice exhibit a common or unbalanced atrioventricular canal committed to the right or left ventricle (J:130755)
• some mice exhibit a common or unbalanced atrioventricular canal committed to the right or left ventricle (J:130755)
• in some mice (J:130755)
• in some mice (J:130755)

respiratory system
• mice exhibit a wide range of tracheal cilia disorganization (J:130755)
• mice exhibit reduced numbers of outer dynein arms in their tracheal cilia compared to in wild-type mice (J:130755)
• mice exhibit a wide range of tracheal cilia disorganization (J:130755)
• mice exhibit reduced numbers of outer dynein arms in their tracheal cilia compared to in wild-type mice (J:130755)
• tracheal cilia are immotile or slow and dyskinetic (J:130755)
• displacement of fluorescent beads deposited above the epithelia is reduced in velocity and directionality compared to in wild-type mice (J:130755)
• tracheal cilia are immotile or slow and dyskinetic (J:130755)
• displacement of fluorescent beads deposited above the epithelia is reduced in velocity and directionality compared to in wild-type mice (J:130755)
• mice exhibit varying degrees of lung and bronchial tree left isomerism (J:130755)
• mice exhibit varying degrees of lung and bronchial tree left isomerism (J:130755)

digestive/alimentary system
• in some mice the pancreas or the stomach are mal-positioned along the midline or the right side (J:130755)
• in some mice the pancreas or the stomach are mal-positioned along the midline or the right side (J:130755)

hematopoietic system
• in some mice the spleen is mal-positioned (J:130755)
• in some mice the spleen is mal-positioned (J:130755)
• in some mice (J:130755)
• in some mice (J:130755)

nervous system
• mice that survive birth die between 3 and 4 weeks of age with domed heads indicative of hydrocephaly (J:130755)
• mice that survive birth die between 3 and 4 weeks of age with domed heads indicative of hydrocephaly (J:130755)

liver/biliary system
• some mice exhibit a symmetric bilobed liver (J:130755)
• some mice exhibit a symmetric bilobed liver (J:130755)

immune system
• in some mice the spleen is mal-positioned (J:130755)
• in some mice the spleen is mal-positioned (J:130755)
• in some mice (J:130755)
• in some mice (J:130755)

cellular
• mice exhibit a wide range of tracheal cilia disorganization (J:130755)
• mice exhibit reduced numbers of outer dynein arms in their tracheal cilia compared to in wild-type mice (J:130755)
• mice exhibit a wide range of tracheal cilia disorganization (J:130755)
• mice exhibit reduced numbers of outer dynein arms in their tracheal cilia compared to in wild-type mice (J:130755)
• tracheal cilia are immotile or slow and dyskinetic (J:130755)
• displacement of fluorescent beads deposited above the epithelia is reduced in velocity and directionality compared to in wild-type mice (J:130755)
• tracheal cilia are immotile or slow and dyskinetic (J:130755)
• displacement of fluorescent beads deposited above the epithelia is reduced in velocity and directionality compared to in wild-type mice (J:130755)


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
01/26/2016
MGI 6.02
The Jackson Laboratory