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b2b2350Clo
Chemically induced Allele Detail
Nomenclature
Symbol: b2b2350Clo
Name: Mutant line 2350; Bench to Bassinet Program (B2B/CVDC), mutation 2350 Cecilia Lo
MGI ID: MGI:5491275
Synonyms: Hugdos
Gene: b2b2350Clo  Location: unknown  
Mutant 2350-007-8 (E13.5) exhibits situs inversus totalis with dextrocardia and inverted outflow

Show the 27 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, b2b2350Clo, 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: 7 anatomical structures
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 b2b2350Clo Mutation:  1 strain or line available
Notes
Summative Diagnosis:
Cardiovascular Phenotype: Dextrocardia and dextroversion and complex congenital heart defects associated with heterotaxy, such as superior-inferior ventricles, anterior positioning of the aorta, double outlet right ventricle (DORV), DORV with anterior positioning of the aorta (DORV, Taussig Bing subtype), and atrioventricular septal defect (AVSD), right aortic arch (RAA), double aortic arch, dual inferior vena cava (IVC), ventricular non-compaction. Also observed are mutants with situs inversus totatlis without congenital heart defects.

Noncardiovascular Phenotype: Abnormal thoracic and abdominal organ situs anomalies, such as left pulmonary isomerism, some mutant fetuses exhibited absent sternal vertebrae or ribs, few with hydronephrosis 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
0100 Situs inversus totalis
0110 Dextrocardia
0184 Superior-inferior ventricles (upstairs-downstairs ventricles)
0190 Heterotaxy syndrome
0600 Double outlet right ventricle
0610 DORV, Taussig bing
1100 Atrioventricular canal (endocardial cushion defect)
1802 Excessive myocardial trabeculation or noncompaction
2700 Abnormal aortic arch
2720 Right aortic arch
2761 Double aortic arch
2810 Inferior vena cava anomaly
4100 Skeletal, skin, muscle anomaly
4239 Left bronchial isomerism
4502 Hydronephrosis
4606 DORV + AVSD (AV canal)
4851 Kartagener syndrome (siewart syndrome)(primary ciliary dyskinesia)
4906 Non-cardiac abnormality
4907 Non-cardiac thoracic 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). 2011-15;
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
09/27/2022
MGI 6.21
The Jackson Laboratory