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Phenotypes Associated with This Genotype
Genotype
MGI:3043046
Allelic
Composition
Cfc1tm1Mms/Cfc1tm1Mms
Genetic
Background
either: (involves: 129S6/SvEvTac * Black Swiss) or (involves: 129S6/SvEvTac * C57BL/6J)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cfc1tm1Mms mutation (1 available); any Cfc1 mutation (22 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• five homozygotes (from over 90) survived past weaning
• most homozygous mutant mice died within the first 2 weeks after birth, probably because of cardiac abnormalities

cardiovascular system
• in some cases, the azygos vein crossed over to the right and the aorta arched rightward
• the mutant azygos vein could be located on the left side while the aorta arched to the left (as in wild-type), on the right while the aorta arched rightward, or bilaterally while the aorta arched leftward
• at 8.5-9.5 dpc, mutant embryos exhibited randomization of cardiac looping
• at these stages, abnormal cardiac looping and embryo turning were highly correlated
• in wild-type mice, the aorta is dorsal to the pulmonary artery and connects to the left ventricle; in contrast, the mutant aorta was ventral to the pulmonary artery and connected to the right ventricle
• 88% of mutant mice displayed septal defects
• in 36% of mutant mice, the cardiac apex pointed to the right as opposed to the normal left
• in 12% of mutant mice, the cardiac apex pointed to the middle as opposed to the normal left

digestive/alimentary system
• many newborn homozygotes exhibited a milk spot on their right side, instead of the left

embryo
• at 8.5-9.5 dpc, homozygous mutant embryos exhibited randomization of embryo turning
• E18.5 and neonatal mutant mice (<1 week of age) displayed left-right laterality defects including heterotaxia, randomization of organ situs, and isomerism of bilaterally asymmetric tissues

growth/size/body
• many newborn homozygotes exhibited a milk spot on their right side, instead of the left
• 100% of mutant mice displayed right pulmonary isomerism
• approximately 50% of homozygotes exhibited inverted situs of visceral organs including the stomach, spleen, and pancreas

hematopoietic system
• 100% homozygotes exhibited asplenia or severe hyposplenia

immune system
• 100% homozygotes exhibited asplenia or severe hyposplenia

liver/biliary system
• 41% of mutants displayed aberrant lobation or midline positioning of the liver

respiratory system
• 100% of mutant mice displayed right pulmonary isomerism

skeleton
N
• skeletal staining of neonatal mutant mice revealed no axial midline abnormalities

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
right atrial isomerism DOID:0060856 OMIM:208530
J:58104


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
06/12/2024
MGI 6.13
The Jackson Laboratory