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b2b1929Clo
Chemically induced Allele Detail
Nomenclature
Symbol: b2b1929Clo
Name: Mutant line 1929; Bench to Bassinet Program (B2B/CVDC), mutation 1929 Cecilia Lo
MGI ID: MGI:5476174
Synonyms: Ducky
Gene: b2b1929Clo  Location: unknown  
Mutant 1929-003-1 (E14.5) exhibits malrotated heart with abnormal OFT alignment and abnormal placement of atrial appendages, with left atrium markedly enlarged

Show the 7 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  C57BL/6J
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
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View phenotypes for all genotypes (concatenated display).
Disease models
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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 b2b1929Clo Mutation:  1 strain or line available
Notes
Summative Diagnosis:
Cardiac phenotype: Laterality defect including situs inversus totalis, double outlet right ventricle (DORV), atrioventricular septal defect (AVSD), pulmonary atresia, dual inferior vena cava (IVC)
Non-cardiac defects: pulmonary agenesis, immotile/dyskinetic airway cilia motility

Phenotypic Similarity to Human Syndrome: Primary ciliary dyskinesia

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
0100 Situs inversus totalis
0600 Double outlet right ventricle
1000 Pulmonary atresia congenital
1100 Atrioventricular canal (endocardial cushion defect)
2810 Inferior vena cava anomaly

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
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last database update
08/12/2014
MGI 5.19
The Jackson Laboratory