Phenotypes Associated with This Genotype

Genotype
MGI:5437107

• Allelic Composition: b2b227Clo/b2b227Clo
• Genetic Background: C57BL/6J-b2b227Clo

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

Mutant 227-002-NC exhibits dextrocardia with duplicated inferior vena cava (IVC) and parallel outflow tracts which is diagnosed as DORV by EFIC imaging

cardiovascular system

heart left ventricle hypertrophy ( J:175213 )

heart right ventricle hypertrophy ( J:175213 )

double outlet right ventricle ( J:175213 )

dextrocardia ( J:175213 )

mesocardia ( J:175213 )

ventricular septal defect ( J:175213 )

cardiomyopathy ( J:175213 )

digestive/alimentary system

right-sided stomach ( J:175213 )

growth/size/body

heart left ventricle hypertrophy ( J:175213 )

heart right ventricle hypertrophy ( J:175213 )

lung cyst ( J:175213 )

heterotaxia ( J:175213 )

right-sided stomach ( J:175213 )

situs inversus totalis ( J:175213 )

hematopoietic system

spleen hypoplasia ( J:175213 )

immune system

spleen hypoplasia ( J:175213 )

muscle

heart left ventricle hypertrophy ( J:175213 )

heart right ventricle hypertrophy ( J:175213 )

cardiomyopathy ( J:175213 )

respiratory system

abnormal respiratory motile cilium physiology ( J:175213 )

• dyskinetic cilia

immotile respiratory cilia ( J:175213 )

lung cyst ( J:175213 )

abnormal respiration ( J:175213 )

cellular

abnormal respiratory motile cilium physiology ( J:175213 )

• dyskinetic cilia

immotile respiratory cilia ( J:175213 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
heart disease		DOID:114		J:175213
primary ciliary dyskinesia		DOID:9562	OMIM:PS244400	J:175213
visceral heterotaxy		DOID:0050545	OMIM:306955 OMIM:605376 OMIM:606325 OMIM:613751 OMIM:614779 OMIM:PS306955	J:175213