b2b2153.1Clo
Chemically induced Allele Detail

Summary

• Symbol: b2b2153.1Clo
• Name: Mutant line 2153.1; Bench to Bassinet Program (B2B/CVDC), mutation 2153, subline 1, Cecilia Lo
• MGI ID: MGI:5516008
• Gene: b2b2153.1Clo Location: unknown
• Alliance: b2b2153.1Clo page

Mutant 2153-001-NB exhibits DORV and hypertrophy

Show the 7 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 b2b2153Clo. Additional incidental mutations were detected in sequencing for the causative mutation, b2b2153.1Clo, and may be present in stocks carrying this mutation.

Expression

In Structures Affected by this Mutation:

3 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 b2b2153.1Clo Mutation: 1 strain or line available

Notes

Summative Diagnosis:
Mutant Type 1:
Cardiovascular phenotype: Double outlet right ventricle (DORV) with subaortic ventricular septal defect (VSD), and ventricular hypertrophy
Noncardiovascular phenotype: Craniofacial defect with micrognathia, cleft palate, and eye defects.

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
3608	Left ventricular hypertrophy
3609	Right ventricular hypertrophy
4163	Micrognathia
4906	Non-cardiac abnormality
7505	Biventricular hypertrophy
0600	Double outlet right ventricle
1300	Ventricular septal defect

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)