b2b1941Clo
Chemically induced Allele Detail

Summary

• Symbol: b2b1941Clo
• Name: Mutant line 1941; Bench to Bassinet Program (B2B/CVDC), mutation 1941 Cecilia Lo
• MGI ID: MGI:5446162
• Synonyms: Unicorn
• Gene: b2b1941Clo Location: unknown
• Alliance: b2b1941Clo page

Mutant 1941-003-2 (E15.5) shows persistent truncus arteriosus (PTA) and high aortic arch

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
• This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. Additional incidental mutations were detected in sequencing for the causative mutation, b2b1941Clo, and may be present in stocks carrying this mutation.

Disease models

Expression

In Mice Carrying this Mutation:	12 assay results
In Structures Affected by this Mutation:	9 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 b2b1941Clo Mutation: 1 strain or line available

Notes

Summative Diagnosis:
Cardiac phenotype: Persistent truncus arteriousus (PTA), pulmonary atresia (PA), transposition of the great arteries (d-TGA), atrioventricular septal defect (AVSD), major aortopulmonary collateral artery (MAPCA), aortic arch anomalies and vascular ring
Noncardiac phenotype: Cleft palate, micrognathia, micropthalmia, thymus aplasia, tracheoesophageal fistula, hydronephrosis, duplex kidney

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
0541	Truncus arteriosus type 4a
0700	D-loop transposition of the great arteries
1000	Pulmonary atresia congenital
1100	Atrioventricular canal (endocardial cushion defect)
2760	Vascular ring
2771	Multiple major aortopulmonary collateral arteries (mapcas)
4202	Tracheoesophageal fistula
4502	Hydronephrosis
4609	Velocardiofacial syndrome
4610	DiGeorge syndrome
4876	Cleft palate
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: 3 reference(s)