C57BL/6J-b2b1146Clo/J

Stock number: 018180
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 complex congenital heart disease associate with heterotaxy, such as Taussig-Bing type double outlet right ventricle (DORV) associated with dextrocardia or dextroversion, and atrioventricular septal defect (AVSD). Right and left lung isomerism, immotile/abnormal airway cilia dysmotility, 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: b2b1146Clo
Name: Bench to Bassinet Program (B2B/CVDC), mutation 1146 Cecilia Lo
MGI accession ID: MGI:5437084
Generation method: Chemically induced (ENU)
Marker symbol: b2b1146Clo
Marker name: Mutant line 1146
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 defects: Complex congenital heart disease associate with heterotaxy, such as Taussig-Bing type double outlet right ventricle (DORV) associated with dextrocardia or dextroversion, atrioventricular septal defect (AVSD)
Noncardiac phenotype: Right and left lung isomerism, immotile/abnormal airway cilia dysmotility, 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
0110	Dextrocardia
0190	Heterotaxy Syndrome
0610	DORV, Taussig bing
0700	D-loop transposition of the great arteries
0720	D-loop TGA with ventricular septal defect
1110	Atrioventricular canal (endocardial cushion defect)
3804	Congenital heart disease
3950	{S,D,D}
3968	{I,D,D}
4508	Polycystic kidney disease