Phenotypes Associated with This Genotype

Genotype
MGI:7341797

• Allelic Composition: Dicer1^tm1Bdh/Dicer1^tm1Bdh; Nkx2-5^tm2(cre)Rph/Nkx2-5⁺
• Genetic Background: involves: 129 * 129S1/Sv

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:156467 )

• embryos are present at Mendelian ratios up to E13.5, but fail to survive past E13.7; only 10% are recovered at E13.7-E14.0 and those found alive are close to expiration

cardiovascular system

thin ventricle myocardium compact layer ( J:156467 )

• a thin, improperly compacted ventricular myocardium is observed at E13.0

• however, no significant increase in cell death is noted in the abnormal myocardium

abnormal cardiac outflow tract development ( J:156467 )

• mRNA levels of Pitx2 (critical in the establishment of OFT positioning relative to the ventricles) are upregulated in the OFT and adjacent ventricular wall starting from E10.25 and as late as E13.0

• mRNA expression of Sema3c is upregulated in the OFT and adjacent ventricular wall starting at E12.5

• mesenchymal apoptosis is significantly reduced in the OFT at E13.0 and E13.5, but not at E12.5 or earlier; a ~5-fold decrease in mesenchymal cell death is noted in the OFT at E12.75-E13.0

• however, no change in cell proliferation is detected at E12.0, E12.5 or E13.0

double outlet right ventricle ( J:156467 )

• by E13.0-E13.5, fifteen of 19 (79%) of hearts exhibit DORV with a concurrent ventricular septal defect (VSD)

ventricular septal defect ( J:156467 )

• by E13.0-E13.5, fifteen of 19 (79%) of hearts exhibit DORV with a concurrent VSD

muscle

thin ventricle myocardium compact layer ( J:156467 )

• a thin, improperly compacted ventricular myocardium is observed at E13.0

• however, no significant increase in cell death is noted in the abnormal myocardium