Phenotypes Associated with This Genotype

Genotype
MGI:5755401

• Allelic Composition: Matr3^{Gt(RRR075)Byg}/Matr3⁺
• Genetic Background: either: (involves: 129 * 129P2/OlaHsd * C57BL/6J) or (involves: 129P2/OlaHsd * C57BL/6J * FVB/N)

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

cardiovascular system

abnormal aortic arch morphology ( J:220876 )

• 12 of 43 (27%) of heterozygotes display aortic arch phenotypes

aortic arch hypoplasia ( J:220876 )

• hypoplastic aortic arch (HAA) in 2 of 43 heterozygotes

interrupted aortic arch ( J:220876 )

• interrupted aortic arch (IAA) in 2 of 43 heterozygotes

aorta coarctation ( J:220876 )

• coarctation of the aorta (CoA) in 3 of 43 heterozygotes

• when present, CoA occurs at a juxtaductal position, just distal to the left subclavian artery

patent ductus arteriosus ( J:220876 )

• patent ductus arteriosus (PDA) in 5 of 43 (12%) heterozygotes

• in some cases, PDA occurs in association with VSD and IAA

double outlet right ventricle, Taussig bing type ( J:220876 )

• DORV with subpulmonic VSD in 1 of 36 heterozygotes

double outlet right ventricle, ventricular defect committed to aorta ( J:220876 )

• DORV with subaortic VSD in 6 of 36 heterozygotes

abnormal heart apex morphology ( J:220876 )

• newborn heterozygotes display altered position of the cardiac apex with an abnormal boot-shaped apex pointing horizontally to the animals left

ventricular septal defect ( J:220876 )

• at E16.5, E18.5 and newborn stages, 11 of 36 (30%) heterozygotes display VSDs that are typically subaortic in location

• in most cases, the aortic valve overrides the right ventricle with 50% or greater overlap and the VSD is closely aligned with the aortic valve (DORV with subaortic VSD)

perimembraneous ventricular septal defect ( J:220876 )

• membranous VSD in 3 of 36 heterozygotes

muscular ventricular septal defect ( J:220876 )

• muscular VSD in 1 of 36 heterozygotes

abnormal heart valve morphology ( J:220876 )

• 15% of heterozygotes display aortic and pulmonary valve defects

bicuspid pulmonary valve ( J:220876 )

• bicuspid pulmonic valve in 1 of 26 heterozygotes

abnormal heart left ventricle outflow tract morphology ( J:220876 )

• heterozygotes exhibit cardiac left ventricular outflow tract (LVOT) malformations

bicuspid aortic valve ( J:220876 )

• bicuspid aortic valve in 3 of 26 heterozygotes

cellular

patent ductus arteriosus ( J:220876 )

• patent ductus arteriosus (PDA) in 5 of 43 (12%) heterozygotes

• in some cases, PDA occurs in association with VSD and IAA