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b2b2059Clo
Chemically induced Allele Detail
Nomenclature
Symbol: b2b2059Clo
Name: Mutant line 2059; Bench to Bassinet Program (B2B/CVDC), mutation 2059 Cecilia Lo
MGI ID: MGI:5491238
Synonyms: Morse
Gene: b2b2059Clo  Location: unknown  
Mutant 2059-013-NA exhibits heterotaxy with left lung isomerism (1R/1L), midline IVC, and DORV, which are all confirmed by EFIC imaging

Show the 34 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, b2b2059Clo, 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: 11 anatomical structures
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 b2b2059Clo Mutation:  0 strains or lines available
Notes
Summative Diagnosis:
Cardiovascular Phenotype: Mutants can have dextracardia and complex congenital heart defects associated with heterotaxy, such as ambiguous atria (left atrial isomerism), transposition of the great arteries (TGA), overriding aorta/double outlet right ventricle (DORV), atrioventricular septal defect (AVSD), biventricular hypertrophy, and inferior vena cava (IVC) anomalies, including dual inferior vena cava
Noncardiovascular Phenotype: Situs inversus totalis, as well as heterotaxy with abnormal thoracic and abdominal organ situs anomalies, such as different combinations with dextrogastria, hypoplastic spleen, left lung isomerism, malaligned sternal vertebras. Kidney cyst and tracheal airway cilia are slow/dyskinetic/immotile.

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
0190 Heterotaxy syndrome
0600 Double outlet right ventricle
0606 DORV + AVSD (AV canal)
0700 D-loop transposition of the great arteries
1100 Atrioventricular canal (endocardial cushion defect)
1432 Overriding aortic valve
2810 Inferior vena cava anomaly
4100 Skeletal, skin, muscle anomaly
4239 Left bronchial isomerism
4508 Polycystic kidney disease
4906 Non-cardiac abnormality
7505 Biventricular hypertrophy

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
02/11/2020
MGI 6.14
The Jackson Laboratory