b2b2140Clo
Chemically induced Allele Detail

Summary

• Symbol: b2b2140Clo
• Name: Mutant line 2140; Bench to Bassinet Program (B2B/CVDC), mutation 2140 Cecilia Lo
• MGI ID: MGI:5560901
• Gene: b2b2140Clo Location: unknown
• Alliance: b2b2140Clo page

Mutant 2140-006-2 (E15.5) show heterotaxy with dextroversion, PTA, and a right aortic arch

Show the 15 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, b2b2140Clo, and may be present in stocks carrying this mutation.

Disease models

Expression

In Structures Affected by this Mutation:

9 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 b2b2140Clo Mutation: 1 strain or line available

Notes

Summative Diagnosis:
Cardiovascular phenotype: Heterotaxy with complex congenital heart disease such as persistent truncus arterosus (PTA) with dextroversion, double outlet right ventricle (DORV) with hypoplastic pulmonary artery (TOF type DORV), atrioventricular canal defect (AVSD), right aortic arch (RAA), and vascular ring
Noncardiovascular phenotype: Central polydactyly with syndactyly and preaxial digit duplication, cleft lip, micrognathia, diaphragmatic hernia, hypoplastic spleen, kidneys are cystic and hypoplastic

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
0190	Heterotaxy syndrome
0500	Truncus arteriosus
0600	Double outlet right ventricle
0606	DORV + AVSD (AV canal)
1100	Atrioventricular canal (endocardial cushion defect)
2700	Abnormal aortic arch
2720	Right aortic arch
2760	Vascular ring
2966	Hypoplastic main pulmonary artery
3608	Left ventricular hypertrophy
3609	Right ventricular hypertrophy
4103	Polydactyly
4163	Micrognathia
4170	Hand and/or foot anomaly
4201	Diaphragmatic hernia
4875	Cleft lip
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)