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b2b1167Clo
Chemically induced Allele Detail

Nomenclature
Symbol: b2b1167Clo
Name: Mutant line 1167; Bench to Bassinet Program (B2B/CVDC), mutation 1167 Cecilia Lo
MGI ID: MGI:5431499
Synonyms: Glow
Gene: b2b1167Clo   Location: unknown    
Mutant 1167-003-4 (E15.5) exhibits dextrocardia with right aortic arch, normal relative great artery positioning and mid-line liver

Show the 12 image(s) involving this allele.

Mutation
origin
Strain of Origin: C57BL/6J
Mutation
description
Allele Type:   Chemically induced (ENU)
Mutation:   Undefined
    This ENU-induced mutation was isolated in a screen at the University of Pittsburgh.
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 b2b1167Clo Mutation: 1 strain or line available
Notes Summative Diagnosis:
Cardiac phenotype: Laterality defects consisting of situs inversus totalis and heterotaxy with complex congenital heart disease such as dextrocardia with double outlet right ventricle (DORV) and atrioventricular canal defect (AVSD)
Noncardiac phenotype: hypoplastic spleen, right pulmonary isomerism, mid-line liver, immotile airway cilia

Phenotypic Similarity to Human Syndrome: Primary ciliary dyskinesia, Katargener's syndrome, Heterotaxy syndrome

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
0110 Dextrocardia
1110 Atrioventricular canal (endocardial cushion defect)
0190 Heterotaxy Syndrome
3804 Congenital heart disease
0600 Double outlet right ventricle

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;():
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
05/08/2013
MGI 5.13
The Jackson Laboratory