C57BL/6J-b2b913Clo/J

Stock number: 013674
Research areas: Cardiovascular Research, Developmental Biology 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.

Two phenotypic groups are associated with this strain. In the first, homozygotes demonstrate cardiovascular defects that involve hypoplastic right heart syndrome (HRHS). In the second, biventricular hypertrophy is found.

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: b2b913Clo
Name: Bench to Bassinet Program (B2B/CvDC), mutation 913 Cecilia Lo
MGI accession ID: MGI:5316782
Generation method: Chemically induced (ENU)
Marker symbol: b2b913Clo
Marker name: Mutant line 913
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:
Phenotype 1: Cardiovascular defects: Hypoplastic right heart syndrome (HRHS): Hypoplastic right ventricle (RV) with hypoplastic tricuspid valve, and hypoplastic pulmonary trunk.
Phenotype 2: Cardiovascular defects: Ventricular hypertrophy.

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
1720	Hypoplastic tricuspid valve
1821	Hypoplastic right ventricle (subnormal cavity volume)
3608	Left ventricular hypertrophy
3609	Right ventricular hypertrophy