Odad3^b2b1885Clo
Chemically induced Allele Detail

Summary

• Symbol: Odad3^b2b1885Clo
• Name: outer dynein arm docking complex subunit 3; Bench to Bassinet Program (B2B/CVDC), mutation 1885 Cecilia Lo
• MGI ID: MGI:5445347
• Synonyms: Snowball
• Gene: Odad3 Location: Chr9:21901167-21913930 bp, - strand Genetic Position: Chr9, 8.01 cM, cytoband A4
• Alliance: Odad3^b2b1885Clo page

Mutant 1885-003-LA displays situs inversus totalis

Show the 6 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. The molecular lesion is a T to C substitution at nucleotide +2 following coding nucleotide 828 (c.828+2T>C, NM_029939) in intron 6. This changes splice donor site G-GT to G-GC (which is assumed to be less efficient) (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Odad3^b2b1885Clo, and may be present in stocks carrying this mutation.

Disease models

Expression

In Mice Carrying this Mutation:	7 assay results
In Structures Affected by this Mutation:	5 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 Odad3 Mutation: 27 strains or lines available

Notes

Summative Diagnosis:
Cardiac phenotype: Dextrocardia associated with situs inversus totalis
Noncardiac phenotype: Hypoplastic spleen, adrenal anomaly, immotile/dyskinetic tracheal 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
0100	Situs inversus totalis
0110	Dextrocardia
4851	Kartagener syndrome (siewart syndrome)(primary ciliary dyskinesia)

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: 3 reference(s)