C57BL/6J-Cplane2^b2b2827Clo/J

Stock number: 022683
Research areas: Cardiovascular Research, Developmental Biology Research, Internal/Organ Research

Description

This 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 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 heterotaxy with complex congenital heart anomalies such as dextrocardia, superior-inferior ventricles, pulmonary atresia, persistant truncus arteriosus (PTA), atrioventricular septal defect (AVSD), and common atrium, right aortic arch (RAA), and juxtaposition of atria. Preaxial and central polydactyly, cleft lip, micrognathia, as well as hypoplastic lungs and thymus are also seen. Animals also presented with tracheoesophageal anomalies such as tracheoesophageal fistula, absent trachea, and lungs connected to esophagus.

Development

This 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: Cplane2^b2b2827Clo
Name: Bench to Bassinet Program (B2B/CVDC), mutation 2827 Cecilia Lo
MGI accession ID: MGI:5560911
Generation method: Chemically induced (ENU)
Marker symbol: Cplane2
Marker name: ciliogenesis and planar polarity effector 2
Chromosome: 4
Strain of origin: C57BL/6J
Molecular note: This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a G to A substitution at nucleotide +1 after coding nucleotide 112 (c.112+1G>A, NM_001081174) in intron 1. This changes splice donor site G-GT to G-AT (which is assumed to be inactive).
General note: Summative Diagnosis:
Cardiovascular Phenotype: Heterotaxy with complex congenital heart anomalies such as dextrocardia, superior-inferior ventricles, pulmonary atresia, persistant truncus arteriosus (PTA), atrioventricular septal defect (AVSD), and common atrium, right aortic arch (RAA), and juxtaposition of atria
Noncardiovascular Phenotype: Preaxial and central polydactyly, cleft lip, micrognathia, as well as hypoplastic lungs and thymus. Also presented with tracheoesophageal anomalies such as tracheoesophageal fistula, absent trachea, and lungs connected to esophagus.

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
0110	Dextrocardia
0190	Heterotaxy syndrome
0500	Truncus arteriosus
1100	Atrioventricular canal (endocardial cushion defect)
1140	Common atrium
4103	Polydactyly
4163	Micrognathia
4170	Hand and/or foot anomaly
4202	Tracheoesophageal fistula
4875	Cleft lip
4906	Non-cardiac abnormality