Phenotypes Associated with This Genotype

Genotype
MGI:5437116

• Allelic Composition: Psme4^b2b1508Clo/Psme4^b2b1508Clo
• Genetic Background: C57BL/6J-Psme4^b2b1508Clo

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

Mutant 1508-006-LA displays heterotaxy, as indicated by levocardia, anterior positioning of the aorta, right pulmonary isomerism, right sided stomach, and abnormal liver lobation

cardiovascular system

right aortic arch ( J:175213 )

dual inferior vena cava ( J:175213 )

double outlet right ventricle, Taussig bing type ( J:175213 )

d-loop transposition of the great arteries ( J:175213 )

tricuspid valve atresia ( J:175213 )

dextrocardia ( J:175213 )

mesocardia ( J:175213 )

atrioventricular septal defect ( J:175213 )

muscular ventricular septal defect ( J:175213 )

growth/size/body

heterotaxia ( J:175213 )

right pulmonary isomerism ( J:175213 )

hematopoietic system

thymus hypoplasia ( J:175213 )

immune system

thymus hypoplasia ( J:175213 )

liver/biliary system

abnormal liver morphology ( J:175213 )

• midline liver

respiratory system

right pulmonary isomerism ( J:175213 )

endocrine/exocrine glands

thymus 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