C57BL/6J-b2b2350Clo/J

Stock number: 022631
Research areas: Cardiovascular Research, Developmental Biology Research, Endocrine Deficiency 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 Dextrocardia and dextroversion and complex congenital heart defects associated with heterotaxy, such as superior-inferior ventricles, anterior positioning of the aorta, double outlet right ventricle (DORV), DORV with anterior positioning of the aorta (DORV, Taussig Bing subtype), and atrioventricular septal defect (AVSD), right aortic arch (RAA), double aortic arch, dual inferior vena cava (IVC), ventricular non-compaction. Also observed are mutants with situs inversus totalis without congenital heart defects. Abnormal thoracic and abdominal organ situs anomalies, such as left pulmonary isomerism, some mutant fetuses exhibited absent sternal vertebrae or ribs, few with hydronephrosis and cystic kidneys 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: b2b2350Clo
Name: Bench to Bassinet Program (B2B/CVDC), mutation 2350 Cecilia Lo
MGI accession ID: MGI:5491275
Generation method: Chemically induced (ENU)
Synonyms: Hugdos
Marker symbol: b2b2350Clo
Marker name: Mutant line 2350
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: Dextrocardia and dextroversion and complex congenital heart defects associated with heterotaxy, such as superior-inferior ventricles, anterior positioning of the aorta, double outlet right ventricle (DORV), DORV with anterior positioning of the aorta (DORV, Taussig Bing subtype), and atrioventricular septal defect (AVSD), right aortic arch (RAA), double aortic arch, dual inferior vena cava (IVC), ventricular non-compaction. Also observed are mutants with situs inversus totatlis without congenital heart defects.

Noncardiovascular Phenotype: Abnormal thoracic and abdominal organ situs anomalies, such as left pulmonary isomerism, some mutant fetuses exhibited absent sternal vertebrae or ribs, few with hydronephrosis and cystic kidneys

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
0100	Situs inversus totalis
0110	Dextrocardia
0184	Superior-inferior ventricles (upstairs-downstairs ventricles)
0190	Heterotaxy syndrome
0600	Double outlet right ventricle
0610	DORV, Taussig bing
1100	Atrioventricular canal (endocardial cushion defect)
1802	Excessive myocardial trabeculation or noncompaction
2700	Abnormal aortic arch
2720	Right aortic arch
2761	Double aortic arch
2810	Inferior vena cava anomaly
4100	Skeletal, skin, muscle anomaly
4239	Left bronchial isomerism
4502	Hydronephrosis
4606	DORV + AVSD (AV canal)
4851	Kartagener syndrome (siewart syndrome)(primary ciliary dyskinesia)
4906	Non-cardiac abnormality
4907	Non-cardiac thoracic abnormality