Phenotypes Associated with This Genotype

Genotype
MGI:4822146

• Allelic Composition: l11Jus16/l11Jus16
• Genetic Background: involves: C57BL/6J * FVB/N

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

mortality/aging

perinatal lethality ( J:163196 )

cardiovascular system

abnormal heart looping ( J:163196 )

• mice exhibit L-loop ventricles and situs inversus in the heart

double outlet right ventricle ( J:163196 )

• in 3 of 17 mice

transposition of great arteries ( J:163196 )

• observed in 2 of 17 mutant mice

dextrocardia ( J:163196 )

• AVSD with dextrocardia is seen in 2 of 17 mice

• AVSD with levocardia is seen in 3 of 17 mice

atrioventricular septal defect ( J:163196 )

• mutant mice develop atrioventricular septal defects with complete penetrance and variable expressivity

muscular ventricular septal defect ( J:163196 )

• 1 in 17 mice exhibit muscular ventricular septal defect

growth/size/body

situs inversus ( J:163196 )

• mutant mice exhibit situs inversus in the heart

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
atrioventricular septal defect		DOID:0050651	OMIM:606215 OMIM:614430 OMIM:614474	J:163196