b2b1298Clo
Chemically induced Allele Detail

Summary

• Symbol: b2b1298Clo
• Name: Mutant line 1298; Bench to Bassinet Program (B2B/CVDC), mutation 1298 Cecilia Lo
• MGI ID: MGI:5437729
• Synonyms: Camel
• Gene: b2b1298Clo Location: unknown
• Alliance: b2b1298Clo page

1298-004-NA exhibits interrupted aortic arch

Show the 22 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, b2b1298Clo, and may be present in stocks carrying this mutation.

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 b2b1298Clo Mutation: 1 strain or line available

Notes

Summative Diagnosis:
Cardiac phenotypes: Double outlet right ventricle (DORV) with subaortic ventricle septal defect (VSD), aortic arch hypoplasia/interrupted aortic arch (IAA), aortic stenosis/preductal coarctation, and atrioventricular septal defect (AVSD), coronary fistula
Noncardiac phenotypes: Kidney anomalies with hydronephrosis, hydrureter, and small glomerular cysts

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
0606	DORV + AVSD (AV canal)
1250	Interrupted aortic arch
1430	Aortic stenosis - supravalvar
2230	Coronary fistula (arterio-venous or arterio-cameral)
2704	Aortic arch hypoplasia
3950	{S,D,D}
4502	Hydronephrosis

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)