b2b2739Clo
Chemically induced Allele Detail

Summary

• Symbol: b2b2739Clo
• Name: Mutant line 2739; Bench to Bassinet Program (B2B/CVDC), mutation 2739 Cecilia Lo
• MGI ID: MGI:5560910
• Gene: b2b2739Clo Location: unknown
• Alliance: b2b2739Clo page

Mutant 2739-005-1 (E15.5) shows abnormal arrangement of the great arteries and thin ventricular walls which is diagnosed as DORV and ventricular non-compaction by EFIC imaging

Show the 11 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, b2b2739Clo, and may be present in stocks carrying this mutation.

Expression

In Structures Affected by this Mutation:

7 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 b2b2739Clo Mutation: 1 strain or line available

Notes

Summative Diagnosis:
Cardiovascular Phenotype: Double outlet right ventricle (DORV, including Taussig Bing type) with ventricular (VSD) and atrioventricular septal defects (AVSD), ventricular non-compaction, right aortic arch (RAA), and aberrant left subclavian artery forming vascular ring
Noncardiovascular Phenotype: Runted, cleft lip/palate, micrognathia, petechiae, and eye defects including anophthalmia and microphthalamia

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)
0610	DORV, Taussig bing
1100	Atrioventricular canal (endocardial cushion defect)
1300	Ventricular septal defect
1802	Excessive myocardial trabeculation or noncompaction
2700	Abnormal aortic arch
2720	Right aortic arch
2730	Aberrant left subclavian artery
2760	Vascular ring
4163	Micrognathia
4401	Cleft palate and cleft lip
4864	Anophthalmia
4875	Cleft lip
4876	Cleft palate
4877	Microphthalmia
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)