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b2b2696Clo
Chemically induced Allele Detail
Nomenclature
Symbol: b2b2696Clo
Name: Mutant line 2696; Bench to Bassinet Program (B2B/CVDC), mutation 2696 Cecilia Lo
MGI ID: MGI:5620185
Gene: b2b2696Clo  Location: unknown  
Mutant (E14.5) shows dextrocardia with abnormal outflow tract arrangement with DORV as seen by ECM hisopathology.

Show the 15 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 b2b2696.1Clo and b2b2696.2Clo.
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: 5 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 b2b2696Clo Mutation:  0 strains or lines available
Notes
Summative Diagnosis:
Mutant Type 1:
Cardiovascular phenotypes: Complex congenital heart defects associated with heterotaxy, dextrocardia, double outlet right ventricle (DORV), atrioventricular septal defect (AVSD), muscular ventricular septal defect (VSD), total anomalous pulmonary venous return (TAPVR), dual inferior vena cava (IVC), and ventricular myocardial non-compaction.

Noncardiovascular phenotype: Abnormal thoracic and abdominal organ situs anomalies, right-sided pancreas, asplenia, and gut malrotation.


Mutant Type 2:
Cardiovascular phenotypes: Atrioventricular septal defect (AVSD), left ventricular hypertrophy, right sided aortic arch, vascular ring and other aortic arch anomalies

Noncardiovascular phenotype: Craniofacial defects including micrognathia, midline facial cleft, bilateral anopthalmia, low set ears, hypoplastic thymus, renal anomalies including duplex kidneys and hydroureter

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 Codes Code Description
110 Dextrocardia
600 Double outlet right ventricle
900 Totally anomalous pulmonary venous return
1100 Atrioventricular canal (endocardial cushion defect)
1320 Ventricular septal defect, muscular
1802 Excessive myocardial trabeculation or noncompaction
190 Heterotaxy Syndrome
2810 Inferior vena cava anomaly
3817 Abdominal situs ambiguous (abdominal heterotaxy)
4407 Intestinal malrotation
4771 Asplenia

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
09/10/2019
MGI 6.14
The Jackson Laboratory