C57BL/6J-b2b2110Clo/J

Stock number: 018251
Research areas: Cardiovascular Research, Developmental Biology Research, Internal/Organ Research, Sensorineural 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 and other developmental defects.

Note: 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 b2b243.1Clo and b2b243.2Clo, 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 of mutant type 1 demonstrate double outlet right ventricle (DORV) with hypoplastic aortic arch. Mutant type 2 animals show biventricular hypertrophy. Anopthalmia/micropthalmia, craniofacial defects including agnathia, micrognathia and cleft palate are also seen.

Development

This strain contains at least two undefined mutations (b2b2110.1Clo and b2b2110.2Clo) 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: b2b2110Clo
Name: Bench to Bassinet Program (B2B/CVDC), mutation 2110 Cecilia Lo
MGI accession ID: MGI:5498488
Generation method: Chemically induced (ENU)
Marker symbol: b2b2110Clo
Marker name: Mutant line 2110
Chromosome: UN
Strain of origin: C57BL/6J
Molecular note: This ENU-induced mutation line 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 b2b2110.1Clo and b2b2110.2Clo
General note: Summative Diagnosis:
Mutant Type 1: Cardiac phenotype (1 mutant): Double outlet right ventricle (DORV) with hypoplastic aortic arch
Mutant Type 2: Cardiac phenotype: Biventricular hypertrophy
Noncardiac phenotype: Anopthalmia/micropthalmia, craniofacial defects including agnathia, micrognathia and cleft palate

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
0600	Double outlet right ventricle
2704	Aortic arch hypoplasia
4163	Micrognathia
4876	Cleft palate
7505	Biventricular hypertrophy

Allele

Symbol: b2b2110.1Clo
Name: Bench to Bassinet Program (B2B/CVDC), mutation 2110, subline 1 Cecilia Lo
MGI accession ID: MGI:5498494
Generation method: Chemically induced (ENU)
Marker symbol: b2b2110.1Clo
Marker name: Mutant line 2110.1
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 b2b2110Clo.
General note: Summative Diagnosis:
Cardiac phenotype (1 mutant): Double outlet right ventricle (DORV) with hypoplastic aortic arch

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
0600	Double outlet right ventricle
2704	Aortic arch hypoplasia

Allele

Symbol: b2b2110.2Clo
Name: Bench to Bassinet Program (B2B/CVDC), mutation 2110, subline 2 Cecilia Lo
MGI accession ID: MGI:5498499
Generation method: Chemically induced (ENU)
Marker symbol: b2b2110.2Clo
Marker name: Mutant line 2110.2
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 b2b2110Clo.
General note: Summative Diagnosis:
Cardiac phenotype: Biventricular hypertrophy
Noncardiac phenotype: Anopthalmia/micropthalmia, craniofacial defects including agnathia, micrognathia and cleft palate

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
4163	Micrognathia
4876	Cleft palate
7505	Biventricular hypertrophy