Phenotypes associated with this allele

• Allele Symbol: Gja1^W45X
• Allele Name: Trp45stop
• Allele ID: MGI:3522220
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gja1^W45X/Gja1^W45X	C57BL/6J-Gja1^W45X	MGI:3522713

Genotype
MGI:3522713

hm1

• Allelic Composition: Gja1^W45X/Gja1^W45X
• Genetic Background: C57BL/6J-Gja1^W45X

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

cardiovascular system

abnormal heart morphology ( J:94456 )

• conotruncal malformations including bulges or pouches consisting of sinusoidal trabeculations are seen at the base of the heart

thin myocardium compact layer ( J:94456 )

• the compact layer is thinner than normal in areas with sinusoidal trabeculations and in the right ventricle

thin right ventricle myocardium compact layer ( J:94456 )

abnormal coronary vessel morphology ( J:94456 )

• large subepicardial coronary vessels are seen and these are particularly abundant in the peritruncal region of the heart; some of these give rise to large sinuses

abnormal coronary artery morphology ( J:94456 )

coronary artery aneurysm ( J:94456 )

• coronary aneurysms are found in the walls and at the base of the pulmonary and aortic outflows

coronary fistula ( J:94456 )

• in some cases the coronary artery inserts below the level of the valves

abnormal coronary vein morphology ( J:94456 )

• a large peritruncal coronary vein was seen at the base of the outflows

abnormal interventricular septum morphology ( J:94456 )

thick semilunar valve ( J:94456 )

• semilunar valves are thickened

thick aortic valve ( J:94456 )

thick pulmonary valve ( J:94456 )

semilunar valve regurgitation ( J:94456 )

• outflow regurgitation is seen

muscle

thin myocardium compact layer ( J:94456 )

• the compact layer is thinner than normal in areas with sinusoidal trabeculations and in the right ventricle

thin right ventricle myocardium compact layer ( J:94456 )