Phenotypes Associated with This Genotype

Genotype
MGI:2176951

• Allelic Composition: Gja1^tm1Kdr/Gja1^tm1Kdr
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

mortality/aging

neonatal lethality, complete penetrance ( J:24121 )

• homozygotes survive to term but die shortly after birth of cyanosis caused by right ventricular outflow tract obstruction

• homozygotes delivered by Cesarian section die shortly after delivery; occasionally, pups survive up to 5 hrs after birth

cardiovascular system

abnormal trabecula carnea morphology ( J:24121 )

• mutant hearts display a slight increase in trabeculation of the right ventricle relative to wild-type or heterozygous hearts

abnormal cardiac outflow tract development ( J:24121 )

• at E16.5 and at term, homozygotes exhibit a consistent conus defect, manifest as an enlarged right ventricular outflow tract

• at term, the enlarged right ventricular cavity is abnormally filled with intraventicular septae that divide the tract into separate, interconnected or blind-ended chambers

abnormal heart right ventricle outflow tract morphology ( J:24121 )

• at E16.5 and at term, homozygotes exhibit a consistent conus defect, manifest as an enlarged right ventricular outflow tract

abnormal pulmonary valve morphology ( J:24121 )

• newborns display an obstruction of the subpulmonary right ventricular outflow tract from the heart to the newly ventilated lungs resulting in failure of pulmonary gas exchange

abnormal vascular smooth muscle physiology ( J:212895 )

• PDGF-induced vascular smooth muscle cell proliferation in low serum media is ablated

respiratory system

abnormal breathing pattern ( J:24121 )

• homozygous mutant pups exhibit labored breathing and swollen abdomens and stomach

abnormal pulmonary gas exchange ( J:24121 )

homeostasis/metabolism

cyanosis ( J:24121 )

• homozygotes delivered by Cesarian section remain cyanotic until death

edema ( J:24121 )

• homozygous mutant pups are externally normal, except for some swelling in the neck area

muscle

abnormal trabecula carnea morphology ( J:24121 )

• mutant hearts display a slight increase in trabeculation of the right ventricle relative to wild-type or heterozygous hearts

abnormal vascular smooth muscle physiology ( J:212895 )

• PDGF-induced vascular smooth muscle cell proliferation in low serum media is ablated