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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 (0 available); any Cfc1 mutation (8 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• most homozygous mutant mice died within the first 2 weeks after birth, probably because of cardiac abnormalities (J:58104)
• most homozygous mutant mice died within the first 2 weeks after birth, probably because of cardiac abnormalities (J:58104)
• five homozygotes (from over 90) survived past weaning (J:58104)
• five homozygotes (from over 90) survived past weaning (J:58104)

cardiovascular system
• in some cases, the azygos vein crossed over to the right and the aorta arched rightward (J:58104)
• in some cases, the azygos vein crossed over to the right and the aorta arched rightward (J:58104)
• 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 (J:58104)
• 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 (J:58104)
• at 8.5-9.5 dpc, mutant embryos exhibited randomization of cardiac looping (J:58104)
• at these stages, abnormal cardiac looping and embryo turning were highly correlated (J:58104)
• at 8.5-9.5 dpc, mutant embryos exhibited randomization of cardiac looping (J:58104)
• at these stages, abnormal cardiac looping and embryo turning were highly correlated (J:58104)
• 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 (J:58104)
• 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 (J:58104)
• 88% of mutant mice displayed septal defects (J:58104)
• 88% of mutant mice displayed septal defects (J:58104)
• in 36% of mutant mice, the cardiac apex pointed to the right as opposed to the normal left (J:58104)
• in 36% of mutant mice, the cardiac apex pointed to the right as opposed to the normal left (J:58104)
• in 12% of mutant mice, the cardiac apex pointed to the middle as opposed to the normal left (J:58104)
• in 12% of mutant mice, the cardiac apex pointed to the middle as opposed to the normal left (J:58104)

digestive/alimentary system
• many newborn homozygotes exhibited a milk spot on their right side, instead of the left (J:58104)
• many newborn homozygotes exhibited a milk spot on their right side, instead of the left (J:58104)

embryogenesis
• at 8.5-9.5 dpc, homozygous mutant embryos exhibited randomization of embryo turning (J:58104)
• at 8.5-9.5 dpc, homozygous mutant embryos exhibited randomization of embryo turning (J:58104)
• 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 (J:58104)
• 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 (J:58104)

growth/size/body
• many newborn homozygotes exhibited a milk spot on their right side, instead of the left (J:58104)
• many newborn homozygotes exhibited a milk spot on their right side, instead of the left (J:58104)
• 100% of mutant mice displayed right pulmonary isomerism (J:58104)
• 100% of mutant mice displayed right pulmonary isomerism (J:58104)
• approximately 50% of homozygotes exhibited inverted situs of visceral organs including the stomach, spleen, and pancreas (J:58104)
• approximately 50% of homozygotes exhibited inverted situs of visceral organs including the stomach, spleen, and pancreas (J:58104)

hematopoietic system
• 100% homozygotes exhibited asplenia or severe hyposplenia (J:58104)
• 100% homozygotes exhibited asplenia or severe hyposplenia (J:58104)

immune system
• 100% homozygotes exhibited asplenia or severe hyposplenia (J:58104)
• 100% homozygotes exhibited asplenia or severe hyposplenia (J:58104)

liver/biliary system
• 41% of mutants displayed aberrant lobation or midline positioning of the liver (J:58104)
• 41% of mutants displayed aberrant lobation or midline positioning of the liver (J:58104)

respiratory system
• 100% of mutant mice displayed right pulmonary isomerism (J:58104)
• 100% of mutant mice displayed right pulmonary isomerism (J:58104)

skeleton
N
• skeletal staining of neonatal mutant mice revealed no axial midline abnormalities (J:58104)
• skeletal staining of neonatal mutant mice revealed no axial midline abnormalities (J:58104)

Mouse Models of Human Disease
OMIM ID Ref(s)
Right Atrial Isomerism; RAI 208530 J:58104


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory