Phenotypes Associated with This Genotype

Genotype
MGI:5561311

• Allelic Composition: b2b2140Clo/b2b2140Clo
• Genetic Background: C57BL/6J-b2b2140Clo

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

Mutant 2140-006-2 (E15.5) show heterotaxy with dextroversion, PTA, and a right aortic arch

cardiovascular system

pulmonary artery hypoplasia ( J:175213 )

abnormal aortic arch morphology ( J:175213 )

right aortic arch ( J:175213 )

vascular ring ( J:175213 )

heart left ventricle hypertrophy ( J:175213 )

heart right ventricle hypertrophy ( J:175213 )

persistent truncus arteriosus ( J:175213 )

double outlet right ventricle ( J:175213 )

double outlet right ventricle with atrioventricular septal defect ( J:175213 )

atrioventricular septal defect ( J:175213 )

craniofacial

micrognathia ( J:175213 )

cleft upper lip ( J:175213 )

growth/size/body

heart left ventricle hypertrophy ( J:175213 )

heart right ventricle hypertrophy ( J:175213 )

cleft upper lip ( J:175213 )

kidney cyst ( J:175213 )

heterotaxia ( J:175213 )

limbs/digits/tail

abnormal autopod morphology ( J:175213 )

polydactyly ( J:175213 )

• central polydactyly with syndactyly and preaxial digit duplication

muscle

heart left ventricle hypertrophy ( J:175213 )

heart right ventricle hypertrophy ( J:175213 )

diaphragmatic hernia ( J:175213 )

skeleton

micrognathia ( J:175213 )

hematopoietic system

spleen hypoplasia ( J:175213 )

immune system

spleen hypoplasia ( J:175213 )

renal/urinary system

kidney cyst ( J:175213 )

renal hypoplasia ( J:175213 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
visceral heterotaxy		DOID:0050545	OMIM:306955 OMIM:605376 OMIM:606325 OMIM:613751 OMIM:614779 OMIM:PS306955	J:175213