b2b1723Clo
Chemically induced Allele Detail

Summary

• Symbol: b2b1723Clo
• Name: Mutant line 1723; Bench to Bassinet Program (B2B/CVDC), mutation 1723 Cecilia Lo
• MGI ID: MGI:5442116
• Synonyms: Pugface
• Gene: b2b1723Clo Location: unknown
• Alliance: b2b1723Clo page

Mutant 1723-007-NC shows craniofacial anomaly and mircognathia

Show the 11 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
• 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, b2b1723Clo, and may be present in stocks carrying this mutation.

Disease models

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 b2b1723Clo Mutation: 1 strain or line available

Notes

Summative Diagnosis:
Cardiac phenotype: Malalignment of the great arteries such as overriding aorta (Ao) and double outlet right ventricle (DORV), coronary fistula, and biventricular hypertrophy
Non-Cardiac phenotype: Craniofacial anomalies including cleft palate and micrognathia

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
1432	Overriding aortic valve
2230	Coronary fistula (arterio-venous or arterio-cameral)
4163	Micrognathia
4876	Cleft palate
7505	Biventricular hypertrophy

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)