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b2b1511Clo
Chemically induced Allele Detail
Summary
Symbol: b2b1511Clo
Name: Mutant line 1511; Bench to Bassinet Program (B2B/CVDC), mutation 1511 Cecilia Lo
MGI ID: MGI:5491228
Synonyms: Zazu
Gene: b2b1511Clo  Location: unknown  
Alliance: b2b1511Clo page
Mutant 1511-006-1 (E16.5) exhibits right aortic arch (RAA), pulmonary stenosis and malalignment of the great arteries, which was shown to be double outlet right ventricle (DORV) by histopathology

Show the 29 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 line was isolated in a screen at the University of Pittsburgh. More than one mutation in this line results in a discernible phenotype in a homozygous recessive screen. At least two segregating phenotype groups are identified. See b2b1511.1Clo and b2b1511.2Clo. (J:175213)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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 b2b1511Clo Mutation:  1 strain or line available
Notes
Summative Diagnosis:
Mutant Type 1: Cardiac Phenotype: Double outlet right ventricle (DORV), membranous and muscular ventricular septal defects (VSD)
Noncardiac Phenotype: Duplex kidney, kidney cysts, hydronephrosis, hydroureter, microphthalmia and other eye defects, facial cleft and cleft palate, polydactyly.
Mutant Type 2: Cardiac Phenotype: Biventricular hypertrophy
Noncardiac Phenotype: Anophthalmia, cleft palate

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
4876 Cleft palate
0600 Double outlet right ventricle
1300 Ventricular septal defect
1310 Ventricular septal defect, membranous
1320 Ventricular septal defect, muscular
4103 Polydactyly
4502 Hydronephrosis
4877 Microphthalmia
4864 Anophthalmia
7505 Biventricular hypertrophy

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