Phenotypes Associated with This Genotype

Genotype
MGI:3766754

• Allelic Composition: Del(11Mpo-Chad)18Brd/+
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

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

mortality/aging

neonatal lethality, incomplete penetrance ( J:109163 )

• majority of heterozygotes are born alive, however about 15% die within several hours of birth

cardiovascular system

pulmonary trunk hypoplasia ( J:109163 )

• 5 of 38 mutants display a hypoplastic pulmonary trunk

abnormal heart morphology ( J:109163 )

• 32% of E18.5 fetuses exhibit structural heart defects

• 5 of 38 mutants exhibit two or more abnormalities that are characteristic of the tetralogy of Fallot complex, including perimembranous ventricular septal defects, overriding of the aorta, and hypoplastic pulmonary trunks

• howerver, mutants do not develop patent ductus arteriosus and dilated left atrium and ventricle

overriding aortic valve ( J:109163 )

• seen in 5 of 38 mutants at E18.5

transposition of great arteries ( J:109163 )

• 8 of 38 fetuses exhibit transposition of the great arteries

perimembraneous ventricular septal defect ( J:109163 )

• 7 of 38 mutants have perimembranous ventricular septal defects

inlet ventricular septal defect ( J:109163 )

• 8 of 38 mutants have inlet ventricular septal defects

heart right ventricle outflow tract stenosis ( J:109163 )

• 4 of 38 mutants exhibit deviation of the parietal muscle band which causes subpulmonary stenosis

reproductive system

female infertility ( J:109163 )

♀

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
dextro-looped transposition of the great arteries		DOID:0060770	OMIM:608808	J:109163
tetralogy of Fallot		DOID:6419	OMIM:187500	J:109163