This strain carries multiple undefined mutations identified in a screen of ENU-induced mutations and may be useful in studies of congenital heart disease and other developmental defects.
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 mutant line 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 here. Because G1 sperm were cryopreserved, additional incidental mutations are also segregating in this strain.
Homozygotes demonstrate cardiovascular defects that involve heterotaxy with congenital heart disease and situs inversus totalis. Dyskinetic/immotile tracheal airway cilia
are also seen. This strain may be a useful model of primary ciliary dyskinesia, Kartagener's syndrome, and heterotaxy.
This mutant line, 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 1116 Cecilia Lo|
|Allele Type||Chemically induced (ENU)|
|Gene Symbol and Name||Daw1, dynein assembly factor with WDR repeat domains 1|
|Strain of Origin||C57BL/6J|
|General Note||Summative Diagnosis:|
Cardiovascular phenotype: Dextrocardia and congenital heart disease associated with heterotaxy, including overriding aorta, ventricular septal defects (VSD), and dual inferior vena cava (IVC). Also observed were mutants with situs inversus totalis without congenital heart defects
Noncardiac phenotype: Situs inversus totalis as well as abnormal thoracic and abdominal organ situs anomalies, such as dextrogastria, hypoplastic spleen, malaligned sternal vertebra, inverted liver and lung lobation, and left lung isomerism. Airway cilia were dyskinetic/immotile