C57BL/6J-b2b386Clo/J

Stock number: 013618
Product name: chibi
Research areas: Cardiovascular Research, Developmental Biology Research, Internal/Organ Research

Description

This strain carries multiple undefined mutations 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 strain, carrying undefined mutations b2b386.1Clo and b2b386.2Clo, 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), common atrioventricular (AV) valve, duplicated inferior vena cava (IVC), interrupted/hypoplastic aortic arch, ventricular septal defect (VSD), and interrupted aortic arch (IAA). Left lung isomerism, left liver isomerism, and cleft palate are also seen.

Development

This strain contains at least two undefined mutations (b2b386.1Clo and b2b386.2Clo) that were identified in an ENU screen for recessive cardiovascular development phenotypes. It was created and maintained on a C57BL/6J genetic background by the NHLBI Cardiovascular Development Consortium (CvDC), Bench to Bassinet Program.

Allele

Symbol: b2b386Clo
Name: Bench to Bassinet Program (B2B/CVDC), mutation 386 Cecilia Lo
MGI accession ID: MGI:5297423
Generation method: Chemically induced (ENU)
Marker symbol: b2b386Clo
Marker name: Mutant line 386
Chromosome: UN
Strain of origin: C57BL/6J
Molecular note: This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. More than one mutation in this line results in a discernible phenotype in a homozygous recessive screen. At least two segregating phenotype groups are identified. See b2b386.1Clo and b2b386.2Clo.
General note: Summative Diagnosis:
Cardiovascular phenotype:
Mutant 1: Heterotaxy with congenital heart disease (CHD): Double outlet right ventricle (DORV), atrioventricular (AVSD), common atrium, and ventricular septal defects (VSD), dual/bilateral inferior vena cava (IVC), coronary fistula, and ventricular non-compaction
Mutant 2: Interrupted aortic arch (IAA)

Non-cardiac phenotype:
Mutant 1: Abnormal thoracic and abdominal organ situs anomalies, such as dextrogastria, left lung isomerism, liver isomerism, and asplenia
Mutant 2: Micrognathia, cleft palate, hypoplastic thymus, malaligned sternal vertebra, as well as duplex and hydronephrotic kidneys

Phenotypic Similarity to Human Syndrome:
Mutant 1: Heterotaxy

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 Codes	Code Description
190	Heterotaxy syndrome
606	DORV + AVSD (AV canal)
1100	Atrioventricular canal (endocardial cushion defect)
1140	Common atrium
1300	Ventricular septal defect
1802	Excessive myocardial trabeculation or noncompaction
2230	Coronary fistula (arterio-venous or arterio-cameral)
2810	Inferior vena cava anomaly
3817	Abdominal situs ambiguous (abdominal heterotaxy)
4239	Left bronchial isomerism
4771	Asplenia
600	Double outlet right ventricle
1250	Interrupted aortic arch
2700	Abnormal aortic arch
4100	Skeletal, skin, muscle anomaly
4163	Micrognathia
4447	Hepatic malformation
4502	Hydronephrosis
4512	Renal malformation
4876	Cleft palate

Allele

Symbol: b2b386.1Clo
Name: Bench to Bassinet Program (B2B/CVDC), mutation 386.1 Cecilia Lo
MGI accession ID: MGI:5605963
Generation method: Chemically induced (ENU)
Marker symbol: b2b386.1Clo
Marker name: Mutant line 386.1 Cecilia Lo
Chromosome: UN
Strain of origin: C57BL/6J
Molecular note: This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. It is a subline of b2b386Clo.
General note: Summative Diagnosis:
Cardiovascular phenotype:
Cardiovascular phenotype: Heterotaxy with congenital heart disease (CHD): Double outlet right ventricle (DORV), atrioventricular (AVSD), common atrium, and ventricular septal defects (VSD), dual/bilateral inferior vena cava (IVC), coronary fistula, and ventricular non-compaction

Non-cardiac phenotype: Abnormal thoracic and abdominal organ situs anomalies, such as dextrogastria, left lung isomerism, liver isomerism, and asplenia


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 Codes	Code Description
190	Heterotaxy syndrome
606	DORV + AVSD (AV canal)
1100	Atrioventricular canal (endocardial cushion defect)
1140	Common atrium
1300	Ventricular septal defect
1802	Excessive myocardial trabeculation or noncompaction
2230	Coronary fistula (arterio-venous or arterio-cameral)
2810	Inferior vena cava anomaly
3817	Abdominal situs ambiguous (abdominal heterotaxy)
4239	Left bronchial isomerism
4771	Asplenia
600	Double outlet right ventricle

Allele

Symbol: b2b386.2Clo
Name: Bench to Bassinet Program (B2B/CVDC), mutation 386.2 Cecilia Lo
MGI accession ID: MGI:5605971
Generation method: Chemically induced (ENU)
Marker symbol: b2b386.2Clo
Marker name: Mutant line 386.2 Cecilia Lo
Chromosome: UN
Strain of origin: C57BL/6J
Molecular note: This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. It is a subline of b2b386Clo.
General note: Summative Diagnosis:
Cardiovascular phenotype:
Interrupted aortic arch (IAA)

Non-cardiac phenotype: Micrognathia, cleft palate, hypoplastic thymus, malaligned sternal vertebra, as well as duplex and hydronephrotic 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 Codes	Code Description
1250	Interrupted aortic arch
2700	Abnormal aortic arch
4100	Skeletal, skin, muscle anomaly
4163	Micrognathia
4447	Hepatic malformation
4502	Hydronephrosis
4512	Renal malformation
4876	Cleft palate