This mutation was identified in a screen of ENU-induced mutations and may be useful in studies of congenital heart disease and development. This phenotype is similar to that of human VACTERL (VATER) syndrome.
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 mesocardia/dextrocardia, persistent truncus arteriosus (PTA), double outlet right ventricle (DORV), atrioventricular septal defect (AVSD), and double aortic arch (AA). Tracheoesophageal fistula (TEF), limb defects, kidney agenesis, supernumerary ribs and no tail are also seen. This phenotype is similar to that of human VACTERL (VATER) syndrome.
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 585 Cecilia Lo|
|Allele Type||Chemically induced (ENU)|
|Gene Symbol and Name||Pcsk5, proprotein convertase subtilisin/kexin type 5|
|Strain of Origin||C57BL/6J|
|General Note||Summative Diagnosis: |
Cardiovascular defects: Mesocardia/dextrocardia, persistent truncus arteriosus (PTA), double outlet right ventricle (DORV), atrioventricular septal defect (AVSD), double aortic arch (AA)
Non-cardiovascular defects: Tracheal agenesis with tracheoesophageal fistula (TEF), limb defects with syndactyly, kidney agenesis, supernumerary ribs, no tail.