Phenotypes Associated with This Genotype

Genotype
MGI:3043046

• Allelic Composition: Cfc1^tm1Mms/Cfc1^tm1Mms
• Genetic Background: either: (involves: 129S6/SvEvTac * Black Swiss) or (involves: 129S6/SvEvTac * C57BL/6J)

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

premature death ( J:58104 )

• five homozygotes (from over 90) survived past weaning

postnatal lethality, incomplete penetrance ( J:58104 )

• most homozygous mutant mice died within the first 2 weeks after birth, probably because of cardiac abnormalities

cardiovascular system

right aortic arch ( J:58104 )

• in some cases, the azygos vein crossed over to the right and the aorta arched rightward

abnormal azygos vein morphology ( 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

abnormal direction of heart looping ( J:58104 )

• 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

double outlet 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

atrial septal defect ( J:58104 )

• 88% of mutant mice displayed septal defects

dextrocardia ( J:58104 )

• in 36% of mutant mice, the cardiac apex pointed to the right as opposed to the normal left

mesocardia ( J:58104 )

• in 12% of mutant mice, the cardiac apex pointed to the middle as opposed to the normal left

digestive/alimentary system

right-sided stomach ( J:58104 )

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

embryo

abnormal direction of embryo turning ( J:58104 )

• at 8.5-9.5 dpc, homozygous mutant embryos exhibited randomization of embryo turning

abnormal left-right axis patterning ( 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

growth/size/body

right-sided stomach ( J:58104 )

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

right pulmonary isomerism ( J:58104 )

• 100% of mutant mice displayed right pulmonary isomerism

situs inversus ( J:58104 )

• approximately 50% of homozygotes exhibited inverted situs of visceral organs including the stomach, spleen, and pancreas

hematopoietic system

absent spleen ( J:58104 )

• 100% homozygotes exhibited asplenia or severe hyposplenia

immune system

absent spleen ( J:58104 )

• 100% homozygotes exhibited asplenia or severe hyposplenia

liver/biliary system

abnormal liver morphology ( J:58104 )

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

respiratory system

right pulmonary isomerism ( J:58104 )

• 100% of mutant mice displayed right pulmonary isomerism

skeleton

skeleton phenotype ( J:58104 )

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