C57BL/6J-b2b1511Clo/J

Stock number: 018207
Research areas: Cardiovascular Research, Developmental Biology Research, Endocrine Deficiency 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.

Animals homozygous for b2b243.1Clo demonstrate double outlet right ventricle (DORV), and membranous and muscular ventricular septal defects (VSD). Duplex kidney, kidney cysts, hydronephrosis, hydroureter, microphthalmia and other eye defects, facial cleft and cleft palate, and polydactyly are also seen. Animals homozygous for b2b243.2Clo show biventricular hypertrophy. Anophthalmia and cleft palate are also seen.

Development

This strain contains at least two undefined mutations (b2b1511.1Clo and b2b1511.2Clo) 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: b2b1511Clo
Name: Bench to Bassinet Program (B2B/CVDC), mutation 1511 Cecilia Lo
MGI accession ID: MGI:5491228
Generation method: Chemically induced (ENU)
Marker symbol: b2b1511Clo
Marker name: Mutant line 1511
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 b2b1511.1Clo and b2b1511.2Clo.
General note: Summative Diagnosis:
Mutant Type 1: Cardiac Phenotype: Double outlet right ventricle (DORV), membranous and muscular ventricular septal defects (VSD)
Noncardiac Phenotype: Duplex kidney, kidney cysts, hydronephrosis, hydroureter, microphthalmia and other eye defects, facial cleft and cleft palate, polydactyly.
Mutant Type 2: Cardiac Phenotype: Biventricular hypertrophy
Noncardiac Phenotype: Anophthalmia, 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
4876	Cleft palate
0600	Double outlet right ventricle
1300	Ventricular septal defect
1310	Ventricular septal defect, membranous
1320	Ventricular septal defect, muscular
4103	Polydactyly
4502	Hydronephrosis
4877	Microphthalmia
4864	Anophthalmia
7505	Biventricular hypertrophy

Allele

Symbol: b2b1511.2Clo
Name: Bench to Bassinet Program (B2B/CVDC), mutation 1511, subline 2 Cecilia Lo
MGI accession ID: MGI:5491230
Generation method: Chemically induced (ENU)
Marker symbol: b2b1511.2Clo
Marker name: Mutant line 1511.2
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 b2b1511Clo.
General note: Summative Diagnosis: Cardiac Phenotype: Biventricular hypertrophy
Noncardiac Phenotype: Anophthalmia, 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
4876	Cleft palate
4864	Anophthalmia
7505	Biventricular hypertrophy

Allele

Symbol: b2b1511.1Clo
Name: Bench to Bassinet Program (B2B/CVDC), mutation 1511, subline 1 Cecilia Lo
MGI accession ID: MGI:5491229
Generation method: Chemically induced (ENU)
Marker symbol: b2b1511.1Clo
Marker name: Mutant line 1511.1
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 b2b1511Clo.
General note: Summative Diagnosis: Cardiac Phenotype: Double outlet right ventricle (DORV), membranous and muscular ventricular septal defects (VSD)
Noncardiac Phenotype: Duplex kidney, kidney cysts, hydronephrosis, hydroureter, microphthalmia and other eye defects, facial cleft and cleft palate, polydactyly.

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
4876	Cleft palate
0600	Double outlet right ventricle
1300	Ventricular septal defect
1310	Ventricular septal defect, membranous
1320	Ventricular septal defect, muscular
4103	Polydactyly
4502	Hydronephrosis
4877	Microphthalmia