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b2b2459Clo
Chemically induced Allele Detail
Summary
Symbol: b2b2459Clo
Name: Mutant line 2459; Bench to Bassinet Program (B2B/CVDC), mutation 2459 Cecilia Lo
MGI ID: MGI:5560903
Gene: b2b2459Clo  Location: unknown  
Alliance: b2b2459Clo page
Mutant 2459-006-1 (E16.5) exhibits malalignment of the great arteries, shown to be double outlet right ventricle (DORV) by EFIC imaging

Show the 19 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, b2b2459Clo, and may be present in stocks carrying this mutation.
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 2 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 b2b2459Clo Mutation:  1 strain or line available
Notes
Summative Diagnosis:
Cardiovascular phenotype: Double outlet right ventricle (DORV), ventricular septal defects (subaortic VSD or AVSD), ventricular non-compaction, dysplastic cushion-like semilunar and atrioventricular valves
Noncardiovascular phenotype: Vascular congestion, hypoplastic thymus, and cystic kidneys

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
0600 Double outlet right ventricle
0606 DORV + AVSD (AV canal)
1100 Atrioventricular canal (endocardial cushion defect)
1300 Ventricular septal defect
1802 Excessive myocardial trabeculation or noncompaction
4508 Polycystic kidney disease
4906 Non-cardiac 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/19/2024
MGI 6.23
The Jackson Laboratory