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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Dnah5hlb612
heart, lung and blood 612
MGI:3722326
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Dnah5hlb612/Dnah5hlb612 involves: C57BL/6J MGI:3778526
ht2
Dnah5hlb612/Dnah5+ involves: C57BL/6J MGI:3778527


Genotype
MGI:3778526
hm1
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 (101 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
• 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 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
• 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




Genotype
MGI:3778527
ht2
Allelic
Composition
Dnah5hlb612/Dnah5+
Genetic
Background
involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dnah5hlb612 mutation (1 available); any Dnah5 mutation (101 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Variable disorganization of tracheal epithelial cilia in Dnah5hlb612/Dnahc5+ and Dnah5hlb612/Dnah5hlb612 mice

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

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





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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
09/13/2016
MGI 6.05
The Jackson Laboratory