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b2b227Clo
Chemically induced Allele Detail
Nomenclature
Symbol: b2b227Clo
Name: Mutant line 227; Bench to Bassinet Program (B2B/CVDC), mutation 227 Cecilia Lo
MGI ID: MGI:5437098
Synonyms: Scrappy
Gene: b2b227Clo  Location: unknown  
Mutant 227-002-NC exhibits dextrocardia with duplicated inferior vena cava (IVC) and parallel outflow tracts which is diagnosed as DORV by EFIC imaging

Show the 19 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 details
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 b2b227Clo Mutation:  1 strain or line available
Notes
Summative Diagnosis:
Mutant Type 1:
Cardiovascular phenotype: Dextrocardia/mesocardia and congenital heart disease associated with heterotaxy, such as double outlet right ventricle (DORV), atrioventricular (AVSD) and ventricular septal defects (VSD), right aortic arch (RAA), right atrial isomerism (RAI), and dual inferior vena cava (IVC)
Noncardiovascular phenotype: Abnormal thoracic and abdominal organ situs anomalies, such as dextrogastria, hypoplastic spleen, inverted liver lobation, and malaligned sternal vertebra. Also observed were cystic lungs and immotile/slow/dyskinetic airway cilia
Mutant Type 2:
Biventricular hypertrophy

Phenotypic Similarity to Human Syndrome:
Mutant Type 1: Heterotaxy, Primary Ciliary Dyskinesia (PCD)

Mutant Type 2: Cardiac hypertrophy

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
0110 Dextrocardia
0140 Mesocardia
0190 Heterotaxy Syndrome
0600 Double outlet right ventricle
0606 DORV + AVSD (AV canal)
1100 Atrioventricular canal (endocardial cushion defect)
1300 Ventricular septal defect
1320 Ventricular septal defect, muscular
2700 Abnormal aortic arch
2720 Right aortic arch
2810 Inferior vena cava anomaly
3804 Congenital heart disease
3817 Abdominal situs ambiguous (abdominal heterotaxy)
4100 Skeletal, skin, muscle anomaly
4200 Respiratory anomaly
4906 Non-cardiac abnormality
4907 Non-cardiac thoracic abnormality
7505 Biventricular hypertrophy

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
09/09/2014
MGI 5.19
The Jackson Laboratory