C57BL/6J-b2b2153Clo/J

Stock number: 018258
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.

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 b2b2153.1Clo and b2b2153.2Clo, 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 (b2b2153.1Clo) demonstrate cardiac defects including double outlet right ventricle (DORV) with subaortic ventricular septal defect (VSD), and ventricular hypertrophy. Craniofacial defect with micrognathia, cleft palate, and eye defects are also seen. The b2b2153.2Clo mutation is associated with biventricular hypertrophy, a curly tail, low set ears, cleft palate, micrognathia, and eye defects such as microphthalmia, enopthalmia, and anophthalmia.

Allele

Symbol: b2b2153.1Clo
Name: Bench to Bassinet Program (B2B/CVDC), mutation 2153, subline 1, Cecilia Lo
MGI accession ID: MGI:5516008
Generation method: Chemically induced (ENU)
Marker symbol: b2b2153.1Clo
Marker name: Mutant line 2153.1
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 b2b2153Clo.
General note: Summative Diagnosis:
Mutant Type 1:
Cardiovascular phenotype: Double outlet right ventricle (DORV) with subaortic ventricular septal defect (VSD), and ventricular hypertrophy
Noncardiovascular phenotype: Craniofacial defect with micrognathia, cleft palate, and eye defects.

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
3608	Left ventricular hypertrophy
3609	Right ventricular hypertrophy
4163	Micrognathia
4906	Non-cardiac abnormality
7505	Biventricular hypertrophy
0600	Double outlet right ventricle
1300	Ventricular septal defect

Allele

Symbol: b2b2153.2Clo
Name: Bench to Bassinet Program (B2B/CVDC), mutation 2153, subline 2, Cecilia Lo
MGI accession ID: MGI:5516009
Generation method: Chemically induced (ENU)
Marker symbol: b2b2153.2Clo
Marker name: Mutant line 2153.2
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 b2b2153Clo.
General note: Summative Diagnosis:
Mutant Type 2:
Cardiovascular phenotype: Biventricular hypertrophy
Noncardiovascular phenotype: Curly tail, low set ears, cleft palate, and micrognathia, and eye defects such as microphthalmia, enopthalmia, and anophthalmia

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
3608	Left ventricular hypertrophy
3609	Right ventricular hypertrophy
4163	Micrognathia
4906	Non-cardiac abnormality
7505	Biventricular hypertrophy
4864	Anophthalmia
4876	Cleft palate
4877	Microphthalmia

Allele

Symbol: b2b2153Clo
Name: Bench to Bassinet Program (B2B/CVDC), mutation 2153 Cecilia Lo
MGI accession ID: MGI:5491242
Generation method: Chemically induced (ENU)
Marker symbol: b2b2153Clo
Marker name: Mutant line 2153
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 b2b2153.1Clo and b2b2153.2Clo.
General note: Summative Diagnosis:
Mutant Type 1:
Cardiovascular phenotype: Double outlet right ventricle (DORV) with subaortic ventricular septal defect (VSD), and ventricular hypertrophy
Noncardiovascular phenotype: Craniofacial defect with micrognathia, cleft palate, and eye defects.

Mutant Type 2:
Cardiovascular phenotype: Biventricular hypertrophy
Noncardiovascular phenotype: Curly tail, low set ears, cleft palate, and micrognathia, and eye defects such as microphthalmia, enopthalmia, and anophthalmia

Phenotypic Similarity to Human Syndrome: Cardiac hypertrophy (Cardiomyopathy)

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
3608	Left ventricular hypertrophy
3609	Right ventricular hypertrophy
4163	Micrognathia
4906	Non-cardiac abnormality
7505	Biventricular hypertrophy
0600	Double outlet right ventricle
1300	Ventricular septal defect
4864	Anophthalmia
4876	Cleft palate
4877	Microphthalmia