b2b464Clo
Chemically induced Allele Detail

Summary

• Symbol: b2b464Clo
• Name: Mutant line 464; Bench to Bassinet Program (B2B/CVDC), mutation 464 Cecilia Lo
• MGI ID: MGI:5297424
• Gene: b2b464Clo Location: unknown
• Alliance: b2b464Clo page

Mutant 464-003-NA presents with hypoplastic left ventricle, and hypoplastic aorta as confirmed by EFIC imaging.

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. Additional incidental mutations were detected in sequencing for the causative mutation, b2b464Clo, and may be present in stocks carrying this mutation.

Disease models

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: 2 strains available Cell Lines: 0 lines available
• Carrying any b2b464Clo Mutation: 2 strains or lines available

Notes

Summative Diagnosis:
Cardiovascular phenotype: Hypoplastic left ventricle (LV), aortic valve hypoplasia, hypoplastic aorta (Ao), hypoplastic mitral valve, aortic arch hypoplasia and atrial septal defect (ASD).

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
1400	Aortic valve abnormality
1515	Hypoplastic mitral valve
1811	Hypoplastic left ventricle (subnormal cavity volume)
2050	Atrial septal defect
2704	Aortic arch hypoplasia

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: 3 reference(s)