b2b1146Clo
Chemically induced Allele Detail

Summary

• Symbol: b2b1146Clo
• Name: Mutant line 1146; Bench to Bassinet Program (B2B/CVDC), mutation 1146 Cecilia Lo
• MGI ID: MGI:5437084
• Synonyms: Hanson
• Gene: b2b1146Clo Location: unknown
• Alliance: b2b1146Clo page

Mutant 1146-012-LA displays transposition of the great arteries (TGA) with abnormal lung lobation

Show the 24 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, b2b1146Clo, and may be present in stocks carrying this mutation.

Disease models

Expression

In Structures Affected by this Mutation:

6 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 b2b1146Clo Mutation: 1 strain or line available

Notes

Summative Diagnosis:
Cardiac defects: Complex congenital heart disease associate with heterotaxy, such as Taussig-Bing type double outlet right ventricle (DORV) associated with dextrocardia or dextroversion, atrioventricular septal defect (AVSD)
Noncardiac phenotype: Right and left lung isomerism, immotile/abnormal airway cilia dysmotility, kidney 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
0110	Dextrocardia
0190	Heterotaxy Syndrome
0610	DORV, Taussig bing
0700	D-loop transposition of the great arteries
0720	D-loop TGA with ventricular septal defect
1110	Atrioventricular canal (endocardial cushion defect)
3804	Congenital heart disease
3950	{S,D,D}
3968	{I,D,D}
4508	Polycystic kidney disease

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)