This mutation was 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 mutation 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 overriding aorta/double outlet right ventricle (DORV), thick aorta/pulmonary artery (Ao/PA) valves, dilated pulmonary artery (PA), hypoplastic aorta, biventricular hypertrophy, and coronary fistula. Craniofacial defects with micrognathia, hypoplastic thymus, unfused sternum, and hindlimb anomalies are also seen.
This mutation, 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 2029 Cecilia Lo|
|Allele Type||Chemically induced (ENU)|
|Gene Symbol and Name||Adamts6, a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 6|
|Strain of Origin||C57BL/6J|
|General Note||Summative Diagnosis:|
Cardiovascular Phenotype: Overriding aorta/Double outlet right ventricle (DORV) with ventricular septal defects (subaortic, perimembranous, and muscular), atrioventricular septal defects (AVSD), and biventricular hypertrophy
Noncardiovascular Phenotype: Abnormal flexure of the hindlimbs, hydrops, midline fusion defect of the sternal vertebra, hypoplastic thymus, short snout, and cleft palate