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b2b2012.1Clo
Chemically induced Allele Detail
Summary
Symbol: b2b2012.1Clo
Name: Mutant line 2012.1; Bench to Bassinet Program (B2B/CVDC), mutation 2012, subline 1 Cecilia Lo
MGI ID: MGI:5491232
Gene: b2b2012.1Clo  Location: unknown  
Alliance: b2b2012.1Clo page
Mutant has parallel outflow tracts indicating possible double outlet right ventricle (DORV), which was confirmed by ECM histopathology.

Show the 8 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
 
Mutation detailsThis ENU-induced mutation was isolated in a screen at the University of Pittsburgh. It is a subline of b2b2012Clo. (J:175213)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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: 0 strains available      Cell Lines: 0 lines available
Carrying any b2b2012.1Clo Mutation:  0 strains or lines available
Notes
Summative Diagnosis:
Cardiovascular phenotypes: Double outlet right ventricle (DORV) with ventricular septal defect (VSD), and atrioventricular septal defect (AVSD).

Noncardiovascular phenotype: Craniofacial defects including short snout, micropthalmia, anophthalmia and micrognathia.

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 Codes Code Description
4163 Micrognathia
4864 Anophthalmia
4877 Microphthalmia
600 Double outlet right ventricle
1100 Atrioventricular canal (endocardial cushion defect)
1300 Ventricular septal defect

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
11/12/2024
MGI 6.24
The Jackson Laboratory