C57BL/6J-b2b383Clo/J

Stock number: 013629
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 and craniofacial development.

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), pulmonary atresia/hypoplastic pulmonary artery (PA), atroventricular septal defect (AVSD), and right aortic arch (RAA). Craniofacial defects (no mouth/nostril openings, no lower jaw/micrognathia, holoprosencephaly, anopthalmia/enopthalmia/micropthalmia) 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: b2b383Clo
Name: Bench to Bassinet Program (B2B/CVDC), mutation 383 Cecilia Lo
MGI accession ID: MGI:5431636
Generation method: Chemically induced (ENU)
Marker symbol: b2b383Clo
Marker name: Mutant line 383
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: Right aortic arch, overriding aorta/double outlet right ventricle (DORV), atrioventricular septal defect (AVSD), ventricular hypertrophy
Non-cardiac defects: Craniofacial defects - no mouth/nostril openings, no lower jaw/micrognathia, holoprosencephaly, anopthalmia/enopthalmia/micropthalmia

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
1100	Atrioventricular canal (endocardial cushion defect)
1300	Ventricular septal defect
1432	Overriding aortic valve
2720	Right aortic arch
3608	Left ventricular hypertrophy
3609	Right ventricular hypertrophy
4163	Micrognathia
4338	Holoprosencephaly
4877	Microphthalmia
0600	Double outlet right ventricle