b2b520Clo
Chemically induced Allele Detail

Summary

• Symbol: b2b520Clo
• Name: Mutant line 520; Bench to Bassinet Program (B2B/CvDC), mutation 520 Cecilia Lo
• MGI ID: MGI:5316778
• Gene: b2b520Clo Location: unknown
• Alliance: b2b520Clo page

2D serial EFIC image stack in the coronal view of mutant 520-005-NE reveals hypoplastic right ventricle, right aortic arch and hypoplastic pulmonary artery
Click thumbnail to play movie.

Show the 8 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. Additional incidental mutations were detected in sequencing for the causative mutation, b2b520Clo, and may be present in stocks carrying this mutation.

Disease models

Expression

In Structures Affected by this Mutation:

4 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 b2b520Clo Mutation: 1 strain or line available

Notes

Summative Diagnosis:
Cardiovascular defects: Hypoplastic right heart syndrome (HRHS) including: hypoplastic tricuspid valve, small right ventricle, and hypoplastic pulmonary artery (PA); right aortic arch

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
1720	Hypoplastic tricuspid valve
1821	Hypoplastic right ventricle (subnormal cavity volume)
2720	Right aortic arch

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)