b2b1247Clo
Chemically induced Allele Detail

Summary

• Symbol: b2b1247Clo
• Name: Mutant line 1247; Bench to Bassinet Program (B2B/CVDC), mutation 1247 Cecilia Lo
• MGI ID: MGI:5313715
• Synonyms: Gas mask
• Gene: b2b1247Clo Location: unknown Genetic Position: ChrUN, Syntenic
• Alliance: b2b1247Clo page

EFIC summary

Show the 12 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: Single point mutation
• 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, b2b1247Clo, and may be present in stocks carrying this mutation.

Expression

In Structures Affected by this Mutation:

1 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 b2b1247Clo Mutation: 1 strain or line available

Notes

Summative Diagnosis:
Cardiovascular defects: Double outlet right ventricule (DORV), muscular ventricular septal defect (mVSD), atrioventricular septal defect (AVSD), and ventricular noncompaction
Non-cardiovascular defects: Cleft palate

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
0600	Double outlet right ventricle
1120	Complete common atrioventricular canal
1320	Ventricular septal defect, muscular
1802	Excessive myocardial trabeculation or noncompaction
1849	Cardiomyopathy, left ventricular noncompaction
4876	Cleft palate

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)