C57BL/6J-b2b2140Clo/J

Stock number: 018270
Research areas: Cardiovascular Research, Developmental Biology Research, Internal/Organ 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 heterotaxy with complex congenital heart disease such as persistent truncus arterosus (PTA) with dextroversion, double outlet right ventricle (DORV) with hypoplastic pulmonary artery (TOF type DORV), atrioventricular canal defect (AVSD), right aortic arch (RAA), and vascular ring. Central polydactyly with syndactyly and preaxial digit duplication, cleft lip, micrognathia, diaphragmatic hernia, hypoplastic spleen, kidneys are cystic and hypoplastic 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: b2b2140Clo
Name: Bench to Bassinet Program (B2B/CVDC), mutation 2140 Cecilia Lo
MGI accession ID: MGI:5560901
Generation method: Chemically induced (ENU)
Marker symbol: b2b2140Clo
Marker name: Mutant line 2140
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: Heterotaxy with complex congenital heart disease such as persistent truncus arterosus (PTA) with dextroversion, double outlet right ventricle (DORV) with hypoplastic pulmonary artery (TOF type DORV), atrioventricular canal defect (AVSD), right aortic arch (RAA), and vascular ring
Noncardiovascular phenotype: Central polydactyly with syndactyly and preaxial digit duplication, cleft lip, micrognathia, diaphragmatic hernia, hypoplastic spleen, kidneys are cystic and hypoplastic

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
0190	Heterotaxy syndrome
0500	Truncus arteriosus
0600	Double outlet right ventricle
0606	DORV + AVSD (AV canal)
1100	Atrioventricular canal (endocardial cushion defect)
2700	Abnormal aortic arch
2720	Right aortic arch
2760	Vascular ring
2966	Hypoplastic main pulmonary artery
3608	Left ventricular hypertrophy
3609	Right ventricular hypertrophy
4103	Polydactyly
4163	Micrognathia
4170	Hand and/or foot anomaly
4201	Diaphragmatic hernia
4875	Cleft lip
4906	Non-cardiac abnormality
4907	Non-cardiac thoracic abnormality