b2b2821Clo
Chemically induced Allele Detail

Summary

• Symbol: b2b2821Clo
• Name: Mutant line 2821; Bench to Bassinet Program (B2B/CVDC), mutation 2821 Cecilia Lo
• MGI ID: MGI:5570109
• Gene: b2b2821Clo Location: unknown
• Alliance: b2b2821Clo page

Mutant 2821-003-LA has heterotaxy with levocardia, TGA, right lung isomerism (4R/4L), and dextrogastria

Show the 50 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, b2b2821Clo, and may be present in stocks carrying this mutation.

Expression

In Structures Affected by this Mutation:

10 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 b2b2821Clo Mutation: 1 strain or line available

Notes

Summative Diagnosis:
Cardiovascular Phenotype: Complex congenital heart defects associated with heterotaxy such as dextroversion with transposition of the great arteries (TGA), atrioventricular septal defect (AVSD), common atrium, right aortic arch (RAA), inferior vena cava (IVC) anomalies such as dual IVC, superior-inferior ventricles, total anomalous pulmonary venous return (TAPVR), aberrant left subclavian artery, and bilateral patent ductus arteriosus (PDA) forming vascular ring. This may be associated with mesocardia and dextrocardia.
Noncardiovascular Phenotype: Abnormal thoracic situs anomalies including dextrogastria, right bronchial isomerism, and inverted liver lobation. Also observed was cleft palate and hypoplastic thymus

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
0102	Levocardia
0110	Dextrocardia
0140	Mesocardia
0184	Superior-inferior ventricles (upstairs-downstairs ventricles)
0190	Heterotaxy syndrome
0700	D-loop transposition of the great arteries
1100	Atrioventricular canal (endocardial cushion defect)
1140	Common atrium
2700	Abnormal aortic arch
2720	Right aortic arch
2730	Aberrant left subclavian artery
2760	Vascular ring
2810	Inferior vena cava anomaly
3817	Abdominal situs ambiguous (abdominal heterotaxy)
4240	Right bronchial isomerism
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)