b2b246Clo
Chemically induced Allele Detail

Summary

• Symbol: b2b246Clo
• Name: Mutant line 246; Bench to Bassinet Program (B2B/CVDC), mutation 246 Cecilia Lo
• MGI ID: MGI:5313711
• Gene: b2b246Clo Location: unknown
• Alliance: b2b246Clo page

Parallel arrangement of aorta and pulmonary artery in mutant 246-007-1 indicates DORV confirmed by EFIC imaging

Show the 18 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.

Expression

In Structures Affected by this Mutation:

3 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 b2b246Clo Mutation: 1 strain or line available

Notes

Summative Diagnosis:
Cardiovascular defect: Double outlet right ventricle (DORV; {SDD}), ventricular septal defect (VSD), hypoplastic pulmonary artery (PA), common atrio-ventricular (AV) valve, and noncompaction of the myocardium
Non-cardiac phenotype: holoprosencephaly (single sample)

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
0602	DORV, ventricular defect committed to aorta
1100	Atrioventricular canal (endocardial cushion defect)
1611	Pulmonary stenosis, valvar
3804	Congenital heart disease

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)