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b2b2025Clo
Chemically induced Allele Detail
Nomenclature
Symbol: b2b2025Clo
Name: Mutant line 2025; Bench to Bassinet Program (B2B/CVDC), mutation 2025 Cecilia Lo
MGI ID: MGI:5491236
Synonyms: Absolem
Gene: b2b2025Clo  Location: unknown  
Mutant 2025-003-LA shows heterotaxy with dextrocardia with transposition of the great arteries (TGA), left liver isomerism (2R/2L), and normal lung lobation (3R/2L)

Show the 33 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: 0 strains available      Cell Lines: 0 lines available
Carrying any b2b2025Clo Mutation:  0 strains or lines available
Notes
Summative Diagnosis:
Mutant Type 1:
Cardiovascular Phenotype: Heterotaxy presenting with dextrocardia/dextroversion and a spectrum of complex congenital heart disease such as superior-inferior ventricles, overriding aorta/double outlet right ventricle (DORV), DORV Taussig Bing subtype, transposition of the great arteries (TGA), atrioventricular septal defect (AVSD), perimembranous VSD (pmVSD), muscular VSD (mVSD), interrupted aortic arch (IAA), aberrant left subclavian artery forming incomplete vascular ring and dual inferior vena cava (IVC), and right/left atrial isomerism
Noncardiovascular Phenotype: Abnormal thoracic and abdominal organ situs anomalies, such as dextrogastria/midline stomach, hypoplastic spleen/asplenia, left lung isomerism, and midline liver

Mutant Type 2:
Cardiovascular phenotype: Double outlet right ventricle (DORV), hypoplastic pulmonary artery, atrioventricular septal defect (AVSD), right aortic arch (RAA), ventricular non-compaction, and aberrant left subclavian artery forming incomplete vascular ring
Noncardiovascular phenotype: Right microphthalmia and syndactyly

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

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
0600 Double outlet right ventricle
0606 DORV + AVSD (AV canal)
0610 DORV, Taussig bing
0110 Dextrocardia
0184 Superior-inferior ventricles (upstairs-downstairs ventricles)
0190 Heterotaxy syndrome
0800 L-loop transpostion of the great arteries
1100 Atrioventricular canal (endocardial cushion defect)
1250 Interrupted aortic arch
1310 Ventricular septal defect, membranous
1320 Ventricular septal defect, muscular
1432 Overriding aortic valve
1802 Excessive myocardial trabeculation or noncompaction
2700 Abnormal aortic arch
2720 Right aortic arch
2730 Aberrant left subclavian artery
2760 Vascular ring
2810 Inferior vena cava anomaly
2966 Hypoplastic main pulmonary artery
3804 Congenital heart disease
3950 {S,D,D}
3973 {I,L,L}
3983 {A,D,D}
4170 Hand and/or foot anomaly
4174 Syndactyly
4239 Left bronchial isomerism
4877 Microphthalmia

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
11/11/2014
MGI 5.20
The Jackson Laboratory