C57BL/6J-b2b1430Clo/J

Stock number: 018198
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 malalignment of the great arteries with transposition of the great arteries (TGA), double outlet right ventricle (DORV), right aortic arch (RAA), and hypoplastic left ventricle/hypoplastic left heart syndrome. A short snout, cleft palate, malaligned sternovertebrae, kidney agenesis, hypoplastic/dysplastic kidney, cystic kidney, and hydronephrosis 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: b2b1430Clo
Name: Bench to Bassinet Program (B2B/CVDC), mutation 1430 Cecilia Lo
MGI accession ID: MGI:5446156
Generation method: Chemically induced (ENU)
Marker symbol: b2b1430Clo
Marker name: Mutant line 1430
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: Malalignment of the great arteries with transposition of the great arteries (TGA), double outlet right ventricle (DORV), hypoplastic left ventricle, and aortic arch anomalies such as right aortic arch (RAA) and double aortic arch
Noncardiovascular phenotype: Short snout, cleft palate, malaligned sternal vertebra, kidney agenesis, hypoplastic/dysplastic kidney, cystic kidney, and hydronephrosis

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
0300	Hypoplastic left heart syndrome
0600	Double outlet right ventricle
0700	D-loop transposition of the great arteries
1811	Hypoplastic left ventricle (subnormal cavity volume)
2700	Abnormal aortic arch
2720	Right aortic arch
2761	Double aortic arch
4100	Skeletal, skin, muscle anomaly
4502	Hydronephrosis
4503	Agenesis of kidneys
4876	Cleft palate
4906	Non-cardiac abnormality
4907	Non-cardiac thoracic abnormality