b2b2459Clo
Chemically induced Allele Detail

Summary

• Symbol: b2b2459Clo
• Name: Mutant line 2459; Bench to Bassinet Program (B2B/CVDC), mutation 2459 Cecilia Lo
• MGI ID: MGI:5560903
• Gene: b2b2459Clo Location: unknown
• Alliance: b2b2459Clo page

Mutant 2459-006-1 (E16.5) exhibits malalignment of the great arteries, shown to be double outlet right ventricle (DORV) by EFIC imaging

Show the 19 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: Undefined
• This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, b2b2459Clo, and may be present in stocks carrying this mutation.

Disease models

Expression

In Structures Affected by this Mutation:

1 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 b2b2459Clo Mutation: 1 strain or line available

Notes

Summative Diagnosis:
Cardiovascular phenotype: Double outlet right ventricle (DORV), ventricular septal defects (subaortic VSD or AVSD), ventricular non-compaction, dysplastic cushion-like semilunar and atrioventricular valves
Noncardiovascular phenotype: Vascular congestion, hypoplastic thymus, and cystic kidneys

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
0606	DORV + AVSD (AV canal)
1100	Atrioventricular canal (endocardial cushion defect)
1300	Ventricular septal defect
1802	Excessive myocardial trabeculation or noncompaction
4508	Polycystic kidney disease
4906	Non-cardiac abnormality

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)