b2b2738Clo
Chemically induced Allele Detail

Summary

• Symbol: b2b2738Clo
• Name: Mutant line 2738; Bench to Bassinet Program (B2B/CVDC), mutation 2738 Cecilia Lo
• MGI ID: MGI:5560909
• Gene: b2b2738Clo Location: unknown
• Alliance: b2b2738Clo page

Mutant 2738-003-NA is diagnosed with RAA and biventricular hypertrophy which is confirmed by EFIC imaging

Show the 20 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, b2b2738Clo, and may be present in stocks carrying this mutation.

Expression

In Structures Affected by this Mutation:

5 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 b2b2738Clo Mutation: 1 strain or line available

Notes

Summative Diagnosis:
Cardiovascular Phenotype: Aortic arch anomalies such as right aortic arch (RAA) and aberrant major artery branching from aorta, biventricular hypertrophy.
Noncardiovascular Phenotype: Oligodactyly, kinked tail, anophthalmia, short snout, agnathia, low set ears, and kidney agenesis. Chiari malformation seen in one mutant.

Phenotypic Similarity to Human Syndrome: Chiari malformation

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
2700	Abnormal aortic arch
2720	Right aortic arch
4100	Skeletal, skin, muscle anomaly
4170	Hand and/or foot anomaly
4333	Chiari malformation
4503	Agenesis of kidneys
4864	Anophthalmia
4906	Non-cardiac abnormality
7505	Biventricular hypertrophy

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)