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 strain 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 outflow tract anomalies including pulmonary stenosis (PS) and persistent truncus arteriosus (PTA), and atrioventricular septal defects (AVSD). Body wall closure defects (gastroschisis/celoschisis/omphalocele) and diaphragmatic hernia are also seen.
This mutant strain, 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 1554 Cecilia Lo|
|Allele Type||Chemically induced (ENU)|
|Gene Symbol and Name||Lrp1, low density lipoprotein receptor-related protein 1|
|Strain of Origin||C57BL/6J|
|General Note||Summative Diagnosis:|
Cardiac phenotype: Outflow tract anomalies including pulmonary stenosis (PS) and persistent truncus arteriosus (PTA), atrioventricular septal defects (AVSD)
Noncardiac phenotype: Body wall closure defects - gastroschisis/celoschisis/omphalocele, diaphragmatic hernia
Phenotypic Similarity to Human Syndrome: Diaphragmatic hernia, gastroschisis, celoschisis, omphalocele