Odad2^b2b227.1Clo
Chemically induced Allele Detail

Summary

• Symbol: Odad2^b2b227.1Clo
• Name: outer dynein arm docking complex subunit 2; Bench to Bassinet Program (B2B/CVDC), mutation 227, subline 1 Cecilia Lo
• MGI ID: MGI:5437099
• Gene: Odad2 Location: Chr18:7088209-7297936 bp, - strand Genetic Position: Chr18, 4.53 cM, cytoband A1
• Alliance: Odad2^b2b227.1Clo page

Mutant 227-002-NC exhibits dextrocardia with duplicated inferior vena cava (IVC) and parallel outflow tracts which is diagnosed as DORV by EFIC imaging

Show the 17 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: B2B/CvDC

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. It is a subline of b2b227Clo. 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). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Odad2^b2b227.1Clo, and may be present in stocks carrying this mutation.

Disease models

Expression

In Structures Affected by this Mutation:

8 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Odad2 Mutation: 77 strains or lines available

Notes

This mutation was derived from the parent line b2b227Clo.

Summative Diagnosis:
Mutant Type 1:
Cardiovascular phenotype: Dextrocardia/mesocardia and congenital heart disease associated with heterotaxy, such as double outlet right ventricle (DORV), atrioventricular (AVSD) and ventricular septal defects (VSD), right aortic arch (RAA), right atrial isomerism (RAI), and dual inferior vena cava (IVC)
Noncardiovascular phenotype: Abnormal thoracic and abdominal organ situs anomalies, such as dextrogastria, hypoplastic spleen, inverted liver lobation, and malaligned sternal vertebra. Also observed were cystic lungs and immotile/slow/dyskinetic airway cilia

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
0140	Mesocardia
0190	Heterotaxy Syndrome
0600	Double outlet right ventricle
0606	DORV + AVSD (AV canal)
1100	Atrioventricular canal (endocardial cushion defect)
1300	Ventricular septal defect
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)
4100	Skeletal, skin, muscle anomaly
4200	Respiratory anomaly

References

• Original: J:175213 Lo C, Information submitted by the NHLBI Cardiovascular Development Consortium (CvDC), Bench to Bassinet Program (B2B/CvDC). MGI Direct Data Submission (B2B/CvDC). 2011-09-12
• All: 2 reference(s)