C57BL/6-b2b134Clo/J

Stock number: 013605
Research areas: Cardiovascular Research, Developmental Biology Research, Internal/Organ Research

Description

This b2b134Clo mutation was identified in a screen of ENU-induced mutations and may be useful in studies of congenital heart disease and kidney disease.

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 b2b134Clo 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 very likley segregating in this strain.

Homozygotes demonstrate cardiovascular defects that involve a double outlet right ventricle (DORV), pulmonary stenosis (hypoplastic pulmonary artery), hypoplastic transverse arch, and coronary artery fistula. Hydronephrosis and kidney 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: b2b134Clo
Name: Bench to Bassinet Program (B2B/CVDC), mutation 134 Cecilia Lo
MGI accession ID: MGI:5297417
Generation method: Chemically induced (ENU)
Marker symbol: b2b134Clo
Marker name: Mutant line 134
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
Cardiovascular defects: Double outlet right ventricle (DORV), pulmonary stenosis (hypoplastic pulmonary artery), hypoplastic transverse arch, and coronary artery fistula.
Non-cardiovascular defects: Hydronephrosis, kidney 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
0602	DORV, ventricular defect committed to aorta
1610	Pulmonary stenosis
2240	Coronary arterio-venous fistula
2704	Aortic arch hypoplasia
2966	Hypoplastic main pulmonary artery
3804	Congenital heart disease
3950	{S,D,D}
4502	Hydronephrosis
4508	Polycystic kidney disease