b2b1511.1Clo
Chemically induced Allele Detail

Summary

• Symbol: b2b1511.1Clo
• Name: Mutant line 1511.1; Bench to Bassinet Program (B2B/CVDC), mutation 1511, subline 1 Cecilia Lo
• MGI ID: MGI:5491229
• Gene: b2b1511.1Clo Location: unknown
• Alliance: b2b1511.1Clo page

Mutant 1511-006-1 (E16.5) exhibits right aortic arch (RAA), pulmonary stenosis and malalignment of the great arteries, which was shown to be double outlet right ventricle (DORV) by histopathology

Show the 23 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. It is a subline of b2b1511Clo. (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, b2b1511.1Clo, and may be present in stocks carrying this mutation.

Expression

In Structures Affected by this Mutation:

6 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 b2b1511.1Clo Mutation: 1 strain or line available

Notes

Summative Diagnosis: Cardiac Phenotype: Double outlet right ventricle (DORV), membranous and muscular ventricular septal defects (VSD)
Noncardiac Phenotype: Duplex kidney, kidney cysts, hydronephrosis, hydroureter, microphthalmia and other eye defects, facial cleft and cleft palate, polydactyly.

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
4876	Cleft palate
0600	Double outlet right ventricle
1300	Ventricular septal defect
1310	Ventricular septal defect, membranous
1320	Ventricular septal defect, muscular
4103	Polydactyly
4502	Hydronephrosis
4877	Microphthalmia

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)