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Phenotypes Associated with This Genotype
Genotype
MGI:3622553
Allelic
Composition
Invsinv/Invsinv
Genetic
Background
FVB/N-Invsinv
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Invsinv mutation (9 available); any Invs mutation (11 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• 85% exhibit atrial situs inversus, 7.5% with incomplete inversus, and 7.5% with left isomerism
• all have right-sided stomach, however the angle between the cardia and the pylorus of the stomach varies
• 20% exhibit abdominal heterotaxy, with an abdomen characterized by a symmetrical liver, hypoplastic spleen, small-lobed pancreas, and malrotation of the common gastrointestinal mesentery
• 7.5% exhibit left atrial isomerism
• 4 of 40 exhibit left isomerism of the lung, in which both sides of the lung are unilobed or pseudobilobed, and associated with hyparterial bronchi
• 40% exhibit situs inversus of the lung and 50% show incomplete inversus
• 25% show visceroatrial heterotaxy
• each organ shows primary situs inversus with variable degrees of irregularity, ranging from almost complete form of situs inversus to left isomerism

cardiovascular system
• mutants sometimes exhibit posterior vena cava interruption
• mutants exhibit cardiovascular anomalies that are seen in various combinations
• 10% exhibit tetralogy of Fallot; seen in 20% of mutants with abdominal heterotaxy and 25% of mutants with visceroatrial heterotaxy
• mutants sometimes have an endocardial cushion defect
• seen occasionally
• seen occasionally
• 85% exhibit atrial situs inversus, 7.5% with incomplete inversus, and 7.5% with left isomerism
• 7.5% exhibit left atrial isomerism
• mutants sometimes display aortic stenosis

digestive/alimentary system
• all have right-sided stomach, however the angle between the cardia and the pylorus of the stomach varies
• 42.5% show incompletely inverted looping of the intestine, 35% show malrotation, and 20% almost complete inversion of the intestinal loop

hematopoietic system
• 55% have normal sized spleen which is located along the great curvature of the right-sided stomach and 9% show a dysplastic spleen which is located bilaterally across the central line of the abdomen
• 22% have a hypoplastic spleen

liver/biliary system
• 35% show situs inversus of the liver, 20% have primary situs inversus with incomplete lobation, and 45% have left isomerism of the liver, in which the hepatic portion of the posterior vena cava is absent

respiratory system
• 4 of 40 exhibit left isomerism of the lung, in which both sides of the lung are unilobed or pseudobilobed, and associated with hyparterial bronchi
• 40% exhibit situs inversus of the lung and 50% show incomplete inversus

endocrine/exocrine glands
• 68% have a warped pancreas which runs along the duodenal looping, but is almost normal in size, and the rest have severe hypoplasia of the pancreas

immune system
• 55% have normal sized spleen which is located along the great curvature of the right-sided stomach and 9% show a dysplastic spleen which is located bilaterally across the central line of the abdomen
• 22% have a hypoplastic spleen

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
tetralogy of Fallot DOID:6419 OMIM:187500
J:48533


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
11/05/2019
MGI 6.14
The Jackson Laboratory