Phenotypes Associated with This Genotype

Genotype
MGI:4417976

• Allelic Composition: Hand2^tm1Cse/Hand2⁺; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S1/Sv * C57BL/6J * CBA/J

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

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:155265 )

• no viable embryos are found at 15.5 dpc, with death prior to complete development of the cardiovascular system

• when pregnant mothers are treated with isoproterenol, approximately half of the mutant embryos survive to 15.5 dpc with about the same number surviving to birth

embryo

embryo phenotype ( J:155265 )

N • neural crest cell migration and smooth muscle differentiation are unaffected

cardiovascular system

pulmonary artery stenosis ( J:155265 )

• pulmonary stenosis is observed at 16.5 dpc (in 37.5% of mutants)

aberrant origin of the right subclavian artery ( J:155265 )

• embryos show abnormal origin of the right subclavian artery including retroesophageal right subclavian artery at 16.5 dpc (in 100% of mutants)

retroesophageal right subclavian artery ( J:155265 )

• observed at 16.5 dpc (in 87.5% of mutants)

interrupted aortic arch ( J:155265 )

• observed at 16.5 dpc (in 62.5% of mutants)

abnormal myocardial trabeculae morphology ( J:155265 )

• hypertrabeculation in the right ventricle is observed at 17.5 dpc due to decrease in number of cells exiting the cell cycle

heart right ventricle hypertrophy ( J:155265 )

• size of right ventricle is increased in embryos at 17.5 dpc

perimembraneous ventricular septal defect ( J:155265 )

• embyos display membranous ventricular defects at 16.5 dpc (in 100% of mutants)

increased fetal cardiomyocyte proliferation ( J:155265 )

• proliferation is increased 2-fold over controls in trabecular zone of the right ventricle at 13.5 and 15.5 dpc with no increase observed in the compact zone of the heart or the trabecular zone of the left ventricle

muscle

abnormal myocardial trabeculae morphology ( J:155265 )

• hypertrabeculation in the right ventricle is observed at 17.5 dpc due to decrease in number of cells exiting the cell cycle

heart right ventricle hypertrophy ( J:155265 )

• size of right ventricle is increased in embryos at 17.5 dpc

increased fetal cardiomyocyte proliferation ( J:155265 )

• proliferation is increased 2-fold over controls in trabecular zone of the right ventricle at 13.5 and 15.5 dpc with no increase observed in the compact zone of the heart or the trabecular zone of the left ventricle

cellular

increased fetal cardiomyocyte proliferation ( J:155265 )

• proliferation is increased 2-fold over controls in trabecular zone of the right ventricle at 13.5 and 15.5 dpc with no increase observed in the compact zone of the heart or the trabecular zone of the left ventricle

abnormal cell cycle ( J:155265 )

• doubling in proportion of cycling cardiomyocytes is detected in trabecular zone of right ventricle

hematopoietic system

abnormal thymus development ( J:155265 )

• the thymus is located lateral to the aortic arch arteries in a more rostral position compared to the normal location on the ventral side of the outflow tract close to the heart

immune system

abnormal thymus development ( J:155265 )

• the thymus is located lateral to the aortic arch arteries in a more rostral position compared to the normal location on the ventral side of the outflow tract close to the heart

endocrine/exocrine glands

abnormal thymus development ( J:155265 )

• the thymus is located lateral to the aortic arch arteries in a more rostral position compared to the normal location on the ventral side of the outflow tract close to the heart

growth/size/body

heart right ventricle hypertrophy ( J:155265 )

• size of right ventricle is increased in embryos at 17.5 dpc