b2b2588Clo
Chemically induced Allele Detail

Summary

• Symbol: b2b2588Clo
• Name: Mutant line 2588; Bench to Bassinet Program (B2B/CVDC), mutation 2588 Cecilia Lo
• MGI ID: MGI:5560906
• Synonyms: Kanga
• Gene: b2b2588Clo Location: unknown
• Alliance: b2b2588Clo page

Mutant 2588-003-2 (E16.5) presents with right aortic arch and parallel outflow tracts, shown to be DORV 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. (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, b2b2588Clo, and may be present in stocks carrying this mutation.

Expression

In Structures Affected by this Mutation:

5 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any b2b2588Clo Mutation: 0 strains or lines available

Notes

Summative Diagnosis:
Cardiovascular Phenotype: Double outlet right ventricle (DORV), subaortic ventricular septal defects (VSD), atrioventricular septal defect (AVSD), right aortic arch (RAA), and aberrant left subclavian artery.
Noncardiovascular Phenotype: gastroschisis, cleft palate, 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
2700	Abnormal aortic arch
2720	Right aortic arch
2730	Aberrant left subclavian artery
4404	Omphalocele
4876	Cleft palate
4906	Non-cardiac abnormality
4907	Non-cardiac thoracic 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)