b2b498Clo
Chemically induced Allele Detail

Summary

• Symbol: b2b498Clo
• Name: Mutant line 498; Bench to Bassinet Program (B2B/CVDC), mutation 498 Cecilia Lo
• MGI ID: MGI:5313713
• Gene: b2b498Clo Location: unknown Genetic Position: ChrUN, Syntenic
• Alliance: b2b498Clo page

3D EFIC reconstruction of mutant 498-003-1 (E18.5) shows pulmonary atresia, right MAPCA, and hypoplastic lung.

Show the 10 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. Additional incidental mutations were detected in sequencing for the causative mutation, b2b498Clo, and may be present in stocks carrying this mutation.

Expression

In Structures Affected by this Mutation:

5 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any b2b498Clo Mutation: 0 strains or lines available

Notes

Summative Diagnosis:
Cardiac Phenotype: Pulmonary atresia, major aortopulmonary collatoral arteries (MAPCAs), ventricular septal defects (VSD).
Noncardiac Phenotype: Severe growth restriction, lung hypoplasia

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
1000	Pulmonary atresia congenital
1300	Ventricular septal defect
2771	Multiple major aortopulmonary collateral arteries (mapcas)
4235	Pulmonary malformation

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)