b2b2289Clo
Chemically induced Allele Detail

Summary

• Symbol: b2b2289Clo
• Name: Mutant line 2289; Bench to Bassinet Program (B2B/CVDC), mutation 2289 Cecilia Lo
• MGI ID: MGI:5510163
• Synonyms: Archie
• Gene: b2b2289Clo Location: unknown
• Alliance: b2b2289Clo page

Mutant 2289-004-2 (16.5) has hypoplastic aorta and double outlet right ventricle (DORV)

Show the 9 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, b2b2289Clo, and may be present in stocks carrying this mutation.

Expression

In Structures Affected by this Mutation:

2 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 b2b2289Clo Mutation: 1 strain or line available

Notes

Summative Diagnosis:
Cardiovascular Phenotype: Double outlet right ventricle (DORV) and aortic arch anomalies including hypoplastic aortic arch, hypoplastic transverse aorta, and right aortic arch (RAA)
Noncardiovascular Phenotype: Hydronephrosis, tubular cysts

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
2700	Abnormal aortic arch
2720	Right aortic arch
4502	Hydronephrosis

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)