C57BL/6J-Odad2^b2b643Clo/J

Stock number: 013673
Research areas: Cardiovascular Research, Cell Biology Research, Developmental Biology Research, Internal/Organ Research

Description

This Odad2 (outer dynein arm docking complex subunit 2) mutation was identified in a screen of ENU-induced mutations and may be useful in studies of congenital heart disease and lung 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 Odad2 (outer dynein arm docking complex subunit 2) 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 situs inversus totalis, heterotaxy with congenital heart disease, double outlet right ventricle (DORV) and perimembranous ventricular septal defect (VSD). Dyskinetic, slow, or immotile airway cilia 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: Odad2^b2b643Clo
Name: Bench to Bassinet Program (B2B/CVDC), mutation 643 Cecilia Lo
MGI accession ID: MGI:5311373
Generation method: Chemically induced (ENU)
Synonyms: Aotea
Marker symbol: Odad2
Marker name: outer dynein arm docking complex subunit 2
Marker synonyms: 4930463I21Rik; ARMC4; b2b227.1Clo; b2b643Clo; CILD23; ddx5-ps1; gudu
Chromosome: 18
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 A substitution at coding nucleotide 2978 in exon 20 of the cDNA (c.2978T>A, NM_001081393). This changes the methionine residue to lysine at position 993 of the encoded protein (p.M993K).
General note: Summative Diagnosis:
Cardiovascular phenotype: Dextrocardia and congenital heart disease associated with situs inversus totalis and heterotaxy, such as double outlet right ventricle (DORV), ventricular septal defects (VSD), right aortic arch (RAA), dual inferior vena cava (IVC)
Noncardiovascular phenotype: Abnormal thoracic and abdominal organ situs anomalies, such as dextrogastria, pulmonary isomerism, and malaligned sternal vertebra. Airway cilia were dyskinetic, slow, or immotile

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
0110	Dextrocardia
0190	Heterotaxy syndrome
0602	DORV, ventricular defect committed to aorta
1300	Ventricular septal defect
1310	Ventricular septal defect, membranous
1320	Ventricular septal defect, muscular
2700	Abnormal aortic arch
2720	Right aortic arch
2810	Inferior vena cava anomaly
3804	Congenital heart disease
3817	Abdominal situs ambiguous (abdominal heterotaxy)
3974	{I,L,I}
4100	Skeletal, skin, muscle anomaly
4238	Bronchial isomerism
4851	Kartagener syndrome (siewart syndrome)(primary ciliary dyskinesia)