b2b1117Clo
Chemically induced Allele Detail

Summary

• Symbol: b2b1117Clo
• Name: Mutant line 1117; Bench to Bassinet Program (B2B/CVDC), mutation 1117 Cecilia Lo
• MGI ID: MGI:5437730
• Synonyms: Argh
• Gene: b2b1117Clo Location: unknown
• Alliance: b2b1117Clo page

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

Show the 13 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
• Mutation details: This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. More than one mutation in this line results in a discernible phenotype in a homozygous recessive screen. At least two segregating phenotype groups are identified. See b2b1117.1Clo and b2b1117.2Clo (J:175213)

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 b2b1117Clo Mutation: 1 strain or line available

Notes

Summative Diagnosis:
Mutant Type 1:
Cardiac phenotype: Pulmonary atresia, ventricular septal defect (VSD) and major aortopulmonary collateral arteries (MAPCA)
Noncardiac phenotype: Facial cleft, micrognathia

Mutant Type 2:
Cardiac phenotype: Biventricular hypertrophy

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
7504	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)