C57BL/6J-Zbtb14^b2b1982Clo/J

Stock number: 018247
Research areas: Cardiovascular Research, Developmental Biology Research, Endocrine Deficiency 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 and other developmental defects.

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 double outlet right ventricle (DORV), perimembranous ventricular septal defect (pmVSD), atrioventricular septal defect (AVSD), and thickened atrioventricular and semilunar valves excencephaly, kidney abnormalities including duplex kidney, hydronephrosis, and cystic kidney are also seen.

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: Zbtb14^b2b1982Clo
Name: Bench to Bassinet Program (B2B/CVDC) mutation 1982, Cecilia Lo
MGI accession ID: MGI:5476175
Generation method: Chemically induced (ENU)
Marker symbol: Zbtb14
Marker name: zinc finger and BTB domain containing 14
Chromosome: 17
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 C to A substitution at coding nucleotide position 419 in exon 3 of the cDNA (c.419C>A, NM_009547). This changes the serine residue to a stop codon at position 140 of the encoded protein (p.S140*).
General note: Summative Diagnosis:
Mutant Type 1: Cardiac phenotype: Double outlet right ventricle (DORV), perimembranous ventricular septal defect (pmVSD), atrioventricular septal defect (AVSD), thickened atrioventricular and semilunar valves
Non-Cardiac phenotype: Excencephaly, kidney abnormalities including duplex kidney, hydronephrosis, cystic kidney

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
0600	Double outlet right ventricle
1100	Atrioventricular canal (endocardial cushion defect)
1310	Ventricular septal defect, membranous
4502	Hydronephrosis