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b2b1801Clo
Chemically induced Allele Detail
Summary
Symbol: b2b1801Clo
Name: Mutant line 1801; Bench to Bassinet Program (B2B/CVDC), mutation 1801 Cecilia Lo
MGI ID: MGI:5446159
Synonyms: Buzz
Gene: b2b1801Clo  Location: unknown  
Alliance: b2b1801Clo page
Mutant 1801-002-NA exhibits dextrocardia and dextrogastria with inverted liver lobation.

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
 
Mutation detailsThis ENU-induced mutation was isolated in a screen at the University of Pittsburgh. More than one mutation in this line results in a discernible phenotype in a homozygous recessive screen. At least two segregating phenotype groups are identified. See b2b1801.1Clo and b2b1801.2Clo Additional incidental mutations were detected in sequencing for the causative mutation, b2b1801Clo, 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: 9 anatomical structure(s)
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 b2b1801Clo Mutation:  1 strain or line available
Notes
Summative Diagnosis:
Mutant Type 1:
Cardiovascular phenotype: Complex congenital heart defects associated with heterotaxy, such as transposition of the great arteries (TGA), double outlet right ventricle (DORV), atrioventricular septal defect (AVSD), right atrial isomerism with duplicated inferior vena cava (IVC), inverted hemiazygous venous connection with left sided hepatic vein connecting to the left side atrium, perimembranous ventricular septal defect (VSD), and inverted liver.
Noncardiac phenotype: situs inversus, right pulmonary isomerism, hemizygous venous connection
Mutant Type 2:
Cardiovascular phenotype: Double outlet right ventricle (DORV)/overriding aorta (Ao), hypoplastic aortic arch, subaortic ventricular septal defect (VSD), and muscular ventricular septal defect (mVSD)

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
1300 Ventricular septal defect
1432 Overriding aortic valve
0110 Dextrocardia
0190 Heterotaxy syndrome
1100 Atrioventricular canal (endocardial cushion defect)
2810 Inferior vena cava anomaly
3950 {S,D,D}
3973 {I,L,L}
4240 Right bronchial isomerism
4447 Hepatic malformation
0600 Double outlet right ventricle
1200 Coarctation
0800 L-loop transpostion of the great arteries
1310 Ventricular septal defect, membranous
3804 Congenital heart disease
1320 Ventricular septal defect, muscular
1432 Overriding aortic valve

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). 2011-09-12;
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
03/19/2024
MGI 6.23
The Jackson Laboratory