b2b1929Clo
Chemically induced Allele Detail

Summary

• Symbol: b2b1929Clo
• Name: Mutant line 1929; Bench to Bassinet Program (B2B/CVDC), mutation 1929 Cecilia Lo
• MGI ID: MGI:5476174
• Synonyms: Ducky
• Gene: b2b1929Clo Location: unknown
• Alliance: b2b1929Clo page

Mutant 1929-003-1 (E14.5) exhibits malrotated heart with abnormal OFT alignment and abnormal placement of atrial appendages, with left atrium markedly enlarged

Show the 7 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, b2b1929Clo, 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 b2b1929Clo Mutation: 1 strain or line available

Notes

Summative Diagnosis:
Cardiac phenotype: Laterality defect including situs inversus totalis, double outlet right ventricle (DORV), atrioventricular septal defect (AVSD), pulmonary atresia, dual inferior vena cava (IVC)
Non-cardiac defects: pulmonary agenesis, immotile/dyskinetic airway cilia motility

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
0100	Situs inversus totalis
0600	Double outlet right ventricle
1000	Pulmonary atresia congenital
1100	Atrioventricular canal (endocardial cushion defect)
2810	Inferior vena cava anomaly

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)