Phenotypes Associated with This Genotype

Genotype
MGI:3617911

• Allelic Composition: Sall4^Gt(XE027)Byg/Sall4⁺; Tbx5^tm1.1Jse/Tbx5⁺
• Genetic Background: involves: 129P2/OlaHsd * Black Swiss * C57BL/6

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

mortality/aging

prenatal lethality, incomplete penetrance ( J:105332 )

• about 80% die between E11.5 and the perinatal period

limbs/digits/tail

abnormal digit morphology ( J:105332 )

• forelimb digit 1 elements are significantly longer than in either single heterozygote

• elongation of digit 1 is detectable at E12.5

abnormal forelimb morphology ( J:105332 )

• occasional severe truncation of the anterior forelimb

cardiovascular system

abnormal atrioventricular valve morphology ( J:105332 )

abnormal mitral valve morphology ( J:105332 )

• the mitral valve was displaced downward toward the apex of the heart

common atrium ( J:105332 )

• in some cases the atrial septum is absent

perimembraneous ventricular septal defect ( J:105332 )

muscular ventricular septal defect ( J:105332 )

• perimembranous and multiple muscular septal defects are seen