This mutation was identified in a screen of ENU-induced mutations and may be useful in studies of congenital heart disease.
The Jackson Laboratory cannot guarantee that cryorecovery of G1 sperm from the Bench to Bassinet (B2B) collection will be successful or that the anticipated phenotype or genotype will be obtained. The cryorecovery fee for this effort will not be refunded or prorated if the recovery is unsuccessful or is in any way unsatisfactory. Genotyping will be the responsibility of the Purchaser.
Cecilia Lo, Univ of Pittsburgh School of Medicine
This mutation in the Dnah11 (dynein, axonemal, heavy chain 11) gene 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 complex congenital heart disease associated with heterotaxy such as double outlet right ventricle (DORV) with subaortic ventricular septal defect, atrioventricular septal defect (AVSD), and hypoplastic/abnormal spleen. Immotile/hyperkinetic/dyskinetic respiratory airway cilia and hydronephrosis are also seen.
This mutation in the Dnah11 gene, identified in an ENU screen for recessive cardiovascular development phenotypes, was created and maintained on a C57BL/6J genetic background by the NHLBI Cardiovascular Development Consortium (CvDC), Bench to Bassinet Program.
|Allele Name||Bench to Bassinet Program (B2B/CVDC) mutation 1727, Cecilia Lo|
|Allele Type||Chemically induced (ENU)|
|Gene Symbol and Name||Dnah11, dynein, axonemal, heavy chain 11|
|Strain of Origin||C57BL/6J|
|General Note||Summative Diagnosis:|
Cardiovascular phenotype: Complex congenital heart disease associated with heterotaxy such as levocardia/dextrocardia, double outlet right ventricle (DORV) with subaortic ventricular septal defect (VSD), atrioventricular septal defect (AVSD), right aortic arch (RAA)
Noncardiovascular phenotype: Situs inversus totalis, as well as abnormal thoracic and abdominal organ situs anomalies, such as hypoplastic/abnormal spleen. Also observed was immotile/hyperkinetic/dyskinetic respiratory airway cilia and hydronephrosis