b2b811.2Clo
Chemically induced Allele Detail

Summary

• Symbol: b2b811.2Clo
• Name: Mutant line 811, subline 2 Cecilia Lo; Bench to Bassinet Program (B2B/CVDC), mutation 811, subline 2 Cecilia Lo
• MGI ID: MGI:5696171
• Gene: b2b811.2Clo Location: unknown
• Alliance: b2b811.2Clo page

EFIC Summary

Show the 4 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. It is a subline of b2b811Clo.

Expression

In Structures Affected by this Mutation:

1 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 b2b811.2Clo Mutation: 0 strains or lines available

Notes

Summative Diagnosis:
Cardiovascular phenotypes: Hypoplastic left ventricle (LV), aortic atresia, and hypoplastic mitral, phenotypes consistent with hypoplastic left heart syndrome (HLHS).

Noncardiovascular phenotype: Severe craniofacial defect with short snout, micrognathia, cleft lip and palate, hypoplastic thymus, hypoplastic and accessory anterior lung lobes, renal anomalies, short gut, club limbs, bobtail, and syndatcyly.

Phenotypic Similarity to Human Syndrome:
HLHS



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 Codes	Code Description
1300	Ventricular septal defect
1310	Ventricular septal defect, membranous
3804	Congenital heart disease

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)