b2b2696Clo
Chemically induced Allele Detail

Summary

• Symbol: b2b2696Clo
• Name: Mutant line 2696; Bench to Bassinet Program (B2B/CVDC), mutation 2696 Cecilia Lo
• MGI ID: MGI:5620185
• Gene: b2b2696Clo Location: unknown
• Alliance: b2b2696Clo page

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 details: This 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.

Disease models

Expression

In Structures Affected by this Mutation:

5 anatomical structure(s)

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). 2011-09-12
• All: 2 reference(s)