Phenotypes associated with this allele
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dnah11iv mutation
(4 available);
any
Dnah11 mutation
(217 available)
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embryo
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• the nodal cilia are rigid and appear frozen
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• nodal cilia seldom move and beads added to the extraembryonic fluid fail to display any net directional movement indicating a lack of nodal flow
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growth/size/body
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• 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
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• 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%
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cellular
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• the nodal cilia are rigid and appear frozen
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• nodal cilia seldom move and beads added to the extraembryonic fluid fail to display any net directional movement indicating a lack of nodal flow
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dnah11iv mutation
(4 available);
any
Dnah11 mutation
(217 available)
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cardiovascular system
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• homozygotes exhibit various cardiovascular, spleen and liver defects that may or may not co-occur in the same mouse
• 7.6% display cardiac lesions, which are more common in females (11.5%) than in males (3.1%) and in fetuses (16%) than in adults (3.6%)
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• 26.6% exhibit a ventral portal vein, with the incidence of the ventral location significantly higher in females (33.1%) than in males (18.9%)
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• 17.8% show an abnormal connection of the inferior caval vein, with the abnormal arrangement more common in fetuses (29.3%) than in adults (15%)
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• 3.3% have left atrial isomerism
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• 1.5% have right atrial isomerism
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• 50.2% exhibit mirror-image arrangement of the atrial appendages
• incidence of isomerism of the atrial appendages is significantly higher in females (7.4%) than in males (1.6%) and in fetuses (12%) than in adults (1.4%)
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growth/size/body
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• 3.3% have left atrial isomerism
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• 1.5% have right atrial isomerism
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• a minority of both situs inversus and situs solitus mice have three lung lobes on the right, three lung lobes on the left, and one or two caudate lobes, instead of the normal three lobes on the right, one lobe on the left and one caudate lobe
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• a minority of both situs inversus and situs solitus mice have only one lung lobe on the right, one on the left and either one or no caudate lobe, instead of the normal three lobes on the right, one lobe on the left and one caudate lobe
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• seen in about 50% of homozygotes
(J:4058)
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hematopoietic system
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• 36.4% exhibit an abnormal spleen, which is seen more often in females (44.6%) than in males (26.8%)
• spleen abnormalities include fissured, bilobed, elongated or absent spleen
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immune system
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• 36.4% exhibit an abnormal spleen, which is seen more often in females (44.6%) than in males (26.8%)
• spleen abnormalities include fissured, bilobed, elongated or absent spleen
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liver/biliary system
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• abnormal arrangement of the liver, which is more common in females (42.6%) than in males (26.8%)
(J:4058)
• a missing liver lobe and associated abnormal path of the inferior vena cava is found in a minority of both situs solitus and situs inversus mice, with the missing lobe usually on the right side in situs solitus and the left side in situs inversus
(J:148465)
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reproductive system
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• females with bilobed or fissured spleens or with abnormal livers have fewer implantation sites than those with normal spleens and livers
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• only 58% of dams with copulatory plugs are pregnant 19 days post-copulation
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homeostasis/metabolism
limbs/digits/tail
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• treatment of the pregnant dam with acetazolamide results in forelimb abnormalities, most commonly (66% of defects) the absence of the fifth digit, in more severe cases (11% of defects) the absence of the third, forth, and fifth digits, and in rare cases the loss of the ulna of the affected forearm
• culturing day 9 fetuses in misonidazole for 48 hours results in limb-bud abnormalities
• these forelimb birth defects induced by acetazolamide or misonidazole follow the situs of the developing embryo such that those with situs inversus have defects in the left forelimb and those with situs solitus have defects in the right forelimb, which is where most defects are found in normal fetuses exposed to these drugs
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respiratory system
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• a minority of both situs inversus and situs solitus mice have three lung lobes on the right, three lung lobes on the left, and one or two caudate lobes, instead of the normal three lobes on the right, one lobe on the left and one caudate lobe
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• a minority of both situs inversus and situs solitus mice have only one lung lobe on the right, one on the left and either one or no caudate lobe, instead of the normal three lobes on the right, one lobe on the left and one caudate lobe
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Analysis Tools