b2b997Clo
Chemically induced Allele Detail

Summary

• Symbol: b2b997Clo
• Name: Mutant line 997; Bench to Bassinet Program (B2B/CVDC), mutation 997 Cecilia Lo
• MGI ID: MGI:5311380
• Synonyms: Voodoo
• Gene: b2b997Clo Location: unknown Genetic Position: ChrUN, Syntenic
• Alliance: b2b997Clo page

Mutant 997-006-LA shows heterotaxy indicated by mesocardia, right lung isomerism, and mid-line liver

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: 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, b2b997Clo, and may be present in stocks carrying this mutation.

Disease models

Expression

In Structures Affected by this Mutation:

4 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 b2b997Clo Mutation: 1 strain or line available

Notes

Summative Diagnosis:
Cardiovascular defects: Heterotaxy with right pulmonary isomerism and congenital heart disease including transposition of the great arteries (TGA), double outlet right ventricle (DORV), and atrio-ventricular septal defects (AVSD)

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
0190	Heterotaxy syndrome
0606	DORV + AVSD (AV canal)
0700	D-loop transposition of the great arteries
1132	Unbalanced complete common atrioventricular canal
1140	Common atrium
3804	Congenital heart disease
3817	Abdominal situs ambiguous (abdominal heterotaxy)
3950	{S,D,D}
3983	{A,D,D}
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)