Phenotypes Associated with This Genotype

Genotype
MGI:3664790

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

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

mortality/aging

neonatal lethality, incomplete penetrance ( J:109301 )

• homozygotes born of heterozygous crosses survive the neonatal period; in contrast, 3 of 50 homozygotes obtained from homozygous crosses die shortly after birth with severe cardiac malformations (double-outlet right ventricle, dilated and hypertrophic cardiomyopathy)

cardiovascular system

pulmonary artery hypoplasia ( J:109301 )

• 1 of the 3 neonatal lethal homozygotes obtained from homozygous crosses exhibited tetralogy of Fallot with pulmonary atresia (severe hypoplasia of the main pulmonary artery with atresia of its origins from the right ventricle)

abnormal heart morphology ( J:109301 )

• 33% of homozygotes born of heterozygous crosses displayed cardiac malformations, none of which were observed in wild-type mice

• notably, homozygotes born of homozygous crosses exhibited a higher frequency of cardiac malformations (44%)

abnormal atrioventricular cushion morphology ( J:109301 )

• 2 of 12 homozygotes born of heterozygous crosses exhibited an unbalanced, partial endocardial cushion defect (ECD), in the absence of a significant ventricular septal defect

• 3 of 39 homozygotes born of homozygous crosses had ECDs, and in one case, DORV plus a mitral valve cleft

double outlet right ventricle ( J:109301 )

• 2 of 12 homozygotes born of heterozygous crosses exhibited variants of double outlet right ventricle (DORV), not observed in wild-type or heterozygous mutant mice

• strikingly, 14 of 39 homozygotes born of homozygous crosses exhibited DORV or tetralogy of Fallot, while 1 of 39 displayed DORV plus ECD

mitral valve stenosis ( J:109301 )

• homozygotes (born of heterozygous crosses) with partial ECDs exhibited severe mitral stenosis

common atrioventricular valve ( J:109301 )

• homozygotes (born of heterozygous crosses) with partial ECDs showed a common atrioventricular valve with papillary muscle attachments within both ventricles

ostium primum atrial septal defect ( J:109301 )

• homozygotes (born of heterozygous crosses) with partial ECDs had a very large ostium primum atrial septal defect

dilated cardiomyopathy ( J:109301 )

• 1 of 39 homozygotes born of homozygous crosses showed dilated cardiomyopathy plus hypertrophy

muscle

dilated cardiomyopathy ( J:109301 )

• 1 of 39 homozygotes born of homozygous crosses showed dilated cardiomyopathy plus hypertrophy

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