C57BL/6J-Psme4^b2b1508Clo/J

Stock number: 018206
Research areas: Cardiovascular Research, Developmental Biology Research, Internal/Organ Research

Description

This mutation was identified in a screen of ENU-induced mutations and may be useful in studies of congenital heart disease and heterotaxy.

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.

Detailed description

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 congenital heart diseases associated with heterotaxy including dextrocardia/mesocardia, transposition of great artery (TGA) with tricuspid atresia, Taussig-Bing type double outlet right ventricle (DORV), atrioventricular septal defect (AVSD), muscular VSD, right sided aortic arch (RAA), aortic arch anomalies, and duplicated inferior vena cava (IVC). Thymus hypoplasia, right pulmonary isomerism, and midline liver are also seen.

Development

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.