This A-to-G point mutation at position 5632 of the Dnah11 (dynein, axonemal, heavy chain 11) cDNA was identified in an ENU screen for recessive cardiovascular development phenotypes in Dr. Cecilia Lo's laboratory, NHLBI Cardiovascular Development Consortium (CvDC). It was recovered from G1 sperm and associated with the phenotype described described here. Because G1 sperm were cryopreserved, additional incidental mutations are also segregating in this strain.
Homozygotes demonstrate congenital heart defects associated with heterotaxy such as vascular sling with isolated left subclavian artery, right aortic arch, muscular vascular septal defect (VSD) and biventricular hypertrophy. A midline liver, left pulmonary isomerism, polysplenia and duplex kidney are also seen.