C57BL/6J-b2b1298Clo/J

Stock number: 013697
Research areas: Cardiovascular Research, Developmental Biology Research, Internal/Organ Research

Description

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.

Detailed description

This undefined 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 a double outlet right ventricle (DORV) with subaortic ventricle septal defect (VSD), aortic arch hypoplasia/interrupted aortic arch (IAA), aortic stenosis/preductal coarctation, atrioventricular septal defect (AVSD), and coronary fistula. Kidney anomalies with hydronephrosis, hydrureter, and small glomerular cysts are also seen.

Development

This undefined 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

Symbol: b2b1298Clo
Name: Bench to Bassinet Program (B2B/CVDC), mutation 1298 Cecilia Lo
MGI accession ID: MGI:5437729
Generation method: Chemically induced (ENU)
Marker symbol: b2b1298Clo
Marker name: Mutant line 1298
Chromosome: UN
Strain of origin: C57BL/6J
Molecular note: This ENU-induced mutation was isolated in a screen at the University of Pittsburgh.
General note: Summative Diagnosis:
Cardiac phenotypes: Double outlet right ventricle (DORV) with subaortic ventricle septal defect (VSD), aortic arch hypoplasia/interrupted aortic arch (IAA), aortic stenosis/preductal coarctation, and atrioventricular septal defect (AVSD), coronary fistula
Noncardiac phenotypes: Kidney anomalies with hydronephrosis, hydrureter, and small glomerular cysts

Fyler Codes
The Fyler code developed by The Boston Children's Heart Foundation in Boston Children's Hospital provides a hierarchical clinical diagnosis of congenital cardiovascular defects and other disorders. These codes are used to delineate pathology in the mutant mouse models that parallel human disease and can be cross referenced to the International Pediatric and Congenital Cardiac Code (IPCCC) (http://www.ipccc.net/).

Fyler Code ID	Code Description
0600	Double outlet right ventricle
0606	DORV + AVSD (AV canal)
1250	Interrupted aortic arch
1430	Aortic stenosis - supravalvar
2230	Coronary fistula (arterio-venous or arterio-cameral)
2704	Aortic arch hypoplasia
3950	{S,D,D}
4502	Hydronephrosis