b2b1249Clo
Chemically induced Allele Detail

Summary

• Symbol: b2b1249Clo
• Name: Mutant line 1249; Bench to Bassinet Program (B2B/CVDC), mutation 1249 Cecilia Lo
• MGI ID: MGI:5311391
• Synonyms: Cherry Garcia
• Gene: b2b1249Clo Location: unknown
• Alliance: b2b1249Clo page

Persistent truncus arteriosus (PTA) and right aortic arch (RAA) in mutant 1249-007-1 (E16.5)

Show the 13 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 line was isolated in a screen at the University of Pittsburgh. (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, b2b1249Clo, and may be present in stocks carrying this mutation.

Expression

In Structures Affected by this Mutation:

8 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 b2b1249Clo Mutation: 1 strain or line available

Notes

Summative Diagnosis:
Cardiovascular defects: Heterotaxy with Double outlet right ventricle (DORV) with hypoplastic pulmonary artery, right atrial isomerism, right aortic arch (RAA), interrupted aortic arch type b (IAA), and aberrant right subclavian artery forming an incomplete vascular ring
Non-cardiovascular defects: Hypoplastic lung, hypoplastic kidney, thymus hypoplasia, cleft palate, missing pair of caudal sternal ribs, and central polydactyly

Phenotypic Similarity to Human Syndrome: Heterotaxy

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
0600	Double outlet right ventricle
1252	Interrupted aortic arch type b
1770	Right atrial abnormality
2720	Right aortic arch
2731	Aberrant right subclavian artery
2760	Vascular ring
2966	Hypoplastic main pulmonary artery
4103	Polydactyly
4207	Hypoplastic lung
4876	Cleft palate

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)