b2b3183Clo
Chemically induced Allele Detail

Summary

• Symbol: b2b3183Clo
• Name: Bench to Bassinet Program (B2B/CVDC), mutation 3183 Cecilia Lo
• MGI ID: MGI:6161436
• Synonyms: Gusher
• Gene: b2b3183Clo Location: unknown
• Alliance: b2b3183Clo page

Mutant 3183-006-1 displayed hypoplastic left ventricle with hypoplastic aorta and transverse aortic arch.

Show the 5 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: B2B/CvDC

Mutation description

• Allele Type: Chemically induced (ENU) (Not Specified)
• Mutation: Undefined
• This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. (J:175213)

Disease models

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: 0 strains available Cell Lines: 0 lines available
• Carrying any b2b3183Clo Mutation: 0 strains or lines available

Notes

Summative Diagnosis:
Cardiac phenotype: Unbalanced AVSD (RV dominant), hypoplastic left ventricle, and hypoplastic ascending aorta and transverse aortic arch. A HLHS variant.

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
0300	Hypoplastic left heart syndrome
1100	Atrioventricular canal (endocardial cushion defect)
1811	Hypoplastic left ventricle (subnormal cavity volume)
2704	Aortic arch hypoplasia
1170	Common AV valve
1410	Aortic stenosis
2700	Abnormal aortic arch

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: 1 reference(s)