Phenotypes Associated with This Genotype

Genotype
MGI:5643689

• Allelic Composition: Nkx2-5^tm1Krc/Nkx2-5^tm1Krc; Isl1^tm1(cre)Tmj/Isl1⁺
• Genetic Background: involves: 129X1/SvJ * C57BL/6

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

mortality/aging

perinatal lethality ( J:214093 )

• cyanosis and death within a few hours of birth; perinatal lethality is due to outflow tract septation defects

cardiovascular system

abnormal myocardial trabeculae morphology ( J:214093 )

• the trabecular myocardium, but not the compact myocardium, shows a reduction in the relative proliferation rate in embryos

abnormal cardiac outflow tract development ( J:214093 )

• foreshortened outflow tract

• complete penetrance of outflow tract defects

• the proximal outflow tract shows defective endocardial networks, while the neural crest-derived distal outflow tract endocardial cushions appear normal

abnormal conotruncal ridge morphology ( J:214093 )

• smaller developing endocardial cushions in the proximal outflow tract

• the outflow tract cushions show a reduction in the relative proliferation rate in embryos

persistent truncus arteriosus ( J:214093 )

• 92% of mutants exhibit a single outflow tract arising from the right ventricle

double outlet right ventricle ( J:214093 )

• only a small number of embryos show double outlet right ventricle

abnormal heart right ventricle morphology ( J:214093 )

• reduction of trabecular networks in the right ventricle, whereas the left ventricle is normal

decreased heart right ventricle size ( J:214093 )

heart right ventricle hypoplasia ( J:214093 )

• decrease in the relative proliferative rate of the second heart field is evident as early as E10, resulting in hypoplastic right ventricle at E12.5

homeostasis/metabolism

cyanosis ( J:214093 )

muscle

abnormal myocardial trabeculae morphology ( J:214093 )

• the trabecular myocardium, but not the compact myocardium, shows a reduction in the relative proliferation rate in embryos