C57BL/6J-Dctn5^b2b315Clo/J

Stock number: 013613
Research areas: Cardiovascular Research, Developmental Biology Research, Internal/Organ Research, Sensorineural Research

Description

This mutation was identified in a screen of ENU-induced mutations and may be useful in studies of congenital heart disease, kidney disease, and 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 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 double outlet right ventricle (DORV), overriding aorta, ventricular septal defect (VSD), and situs inversus totalis. Micrognathia, microcephaly/anencephaly, holoprosencephaly, polycystic kidney disease, ophthalmic malformation, and mouth malformation 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: Dctn5^b2b315Clo
Name: Bench to Bassinet Program (B2B/CVDC), mutation 315 Cecilia Lo
MGI accession ID: MGI:5313698
Generation method: Chemically induced (ENU)
Marker symbol: Dctn5
Marker name: dynactin 5
Chromosome: 7
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 T to C substitution at nucleotide +6 following coding nucleotide 348 (c.348+6T>C, NM_021608) in intron 4. This may affect splicing from the nearby splice donor site.
General note: Summative Diagnosis:
Cardiovascular defect: Double outlet right ventricle (DORV), overriding aorta, and ventricular septal defect (VSD)
Non-Cardiovascular defect: Micrognathia, microcephaly/anencephaly, holoprosencephaly.

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
0100	Situs inversus totalis
0602	DORV, ventricular defect committed to aorta
1310	Ventricular septal defect, membranous
1432	Overriding aortic valve
3804	Congenital heart disease
4508	Polycystic kidney disease
4863	Opthalmic malformation
4874	Mouth malformation