C57BL/6J-b2b1060Clo/J

Stock number: 013652
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 development.

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.

Homozygotes demonstrate cardiovascular defects that involve a persistent truncus arteriosus (PTA). Oligodactyly, craniofacial anomalies, intrauterine growth restriction, hypoplastic lungs, and ectopia cordis are also seen.

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: b2b1060Clo
Name: Bench to Bassinet Program (B2B/CvDC), mutation 1060 Cecilia Lo
MGI accession ID: MGI:5316785
Generation method: Chemically induced (ENU)
Synonyms: Big Bird
Marker symbol: b2b1060Clo
Marker name: Mutant line 1060
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:
Cardiovascular defects: Persistent truncus arteriosus (PTA)
Non-cardiovascular defects: Oligodactyly, craniofacial anomalies, intrauterine growth restriction, hypoplastic lungs, and ectopia cordis.

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
0170	Ectopia cordis
0500	Truncus arteriosus
4134	Skull anomaly, congenital