Phenotypes Associated with This Genotype

Genotype
MGI:3664791

• Allelic Composition: Gja5^tm1Paul/Gja5⁺
• Genetic Background: involves: 129S4/SvJae * C57BL/6

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

cardiovascular system

abnormal aortic arch and aortic arch branch attachment ( J:109301 )

• 1 of 33 heterozygous newborns displayed an aortic arch branch vessel abnormality, whereby the take-off of two branch vessels from the aorta was more proximal than normal and the left vessel coursed leftward and laterally

abnormal heart morphology ( J:109301 )

• 6 of 33 (18%) heterozygous fetuses or neonates displayed cardiac malformations, none of which were observed in wild-type mice

bifid atrial appendage ( J:109301 )

• at E18.5, 3 of 33 heterozygotes exhibited a bifid atrial appendage (one in the right atrium, two in the left atrium), not observed in any wild-type or homozygous mutant mice

• notably, one heterozygous heart presented both bifid atrial appendage and tetralogy of Fallot

ventricular septal defect ( J:109301 )

• 2 of 33 heterozygotes displayed isolated ventricular septal defects

• 1 of 33 heterozygotes exhibited both bifid atrial appendage and tetralogy of Fallot

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
tetralogy of Fallot		DOID:6419	OMIM:187500	J:109301