b2b1117.1Clo
Chemically induced Allele Detail

Summary

• Symbol: b2b1117.1Clo
• Name: Mutant line 1117.1; Bench to Bassinet Program (B2B/CVDC), mutation 1117, subline 1 Cecilia Lo
• MGI ID: MGI:5437731
• Gene: b2b1117.1Clo Location: unknown
• Alliance: b2b1117.1Clo page

Mutant 1117-007-NA shows a single great artery arising from ventricles with right sided aortic arch

Show the 9 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
• Mutation details: This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. It is a subline of b2b1117Clo. The molecular lesion is in the Kif15 gene. (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, b2b1117.1Clo, and may be present in stocks carrying this mutation.

Expression

In Structures Affected by this Mutation:

6 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 b2b1117.1Clo Mutation: 1 strain or line available

Notes

This mutation was derived from the parent line b2b1117Clo.

Summative Diagnosis:
Mutant Type 1:
Cardiac phenotype: Pulmonary atresia, ventricular septal defect (VSD) and major aortopulmonary collateral arteries (MAPCA)
Noncardiac phenotype: Facial cleft, 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
1000	Pulmonary atresia congenital
1300	Ventricular septal defect
2771	Multiple major aortopulmonary collateral arteries (mapcas)
4163	Micrognathia

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)