About   Help   FAQ
b2b1146Clo
Chemically induced Allele Detail
Nomenclature
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  
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)
Phenotypes
Loading...
View phenotypes for all genotypes (concatenated display).
Disease models
Loading...
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

Phenotypic Similarity to Human Syndrome: Primary ciliary dyskinesia, Heterotaxy, Polycystic kidney disease

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. MGI Direct Data Submission (B2B/CvDC). 2011-13;
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
09/23/2014
MGI 5.19
The Jackson Laboratory