C57BL/6J-b2b2739Clo/J

Stock number: 022675
Research areas: Cardiovascular Research, Developmental Biology Research, Internal/Organ Research, Sensorineural Research

Description

This undefined mutation was identified in a screen of ENU-induced mutations and may be useful in studies of congenital heart 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 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, including Taussig Bing type) with ventricular (VSD) and atrioventricular septal defects (AVSD), ventricular non-compaction, right aortic arch (RAA), and aberrant left subclavian artery forming vascular ring. Runted, cleft lip/palate, micrognathia, petechiae, and eye defects including anophthalmia and microphthalamia.

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: b2b2739Clo
Name: Bench to Bassinet Program (B2B/CVDC), mutation 2739 Cecilia Lo
MGI accession ID: MGI:5560910
Generation method: Chemically induced (ENU)
Marker symbol: b2b2739Clo
Marker name: Mutant line 2739
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 Phenotype: Double outlet right ventricle (DORV, including Taussig Bing type) with ventricular (VSD) and atrioventricular septal defects (AVSD), ventricular non-compaction, right aortic arch (RAA), and aberrant left subclavian artery forming vascular ring
Noncardiovascular Phenotype: Runted, cleft lip/palate, micrognathia, petechiae, and eye defects including anophthalmia and microphthalamia

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)
0610	DORV, Taussig bing
1100	Atrioventricular canal (endocardial cushion defect)
1300	Ventricular septal defect
1802	Excessive myocardial trabeculation or noncompaction
2700	Abnormal aortic arch
2720	Right aortic arch
2730	Aberrant left subclavian artery
2760	Vascular ring
4163	Micrognathia
4401	Cleft palate and cleft lip
4864	Anophthalmia
4875	Cleft lip
4876	Cleft palate
4877	Microphthalmia
4906	Non-cardiac abnormality