b2b1430Clo
Chemically induced Allele Detail

Summary

• Symbol: b2b1430Clo
• Name: Mutant line 1430; Bench to Bassinet Program (B2B/CVDC), mutation 1430 Cecilia Lo
• MGI ID: MGI:5446156
• Synonyms: Donner
• Gene: b2b1430Clo Location: unknown
• Alliance: b2b1430Clo page

Mutant 1430-014-NC has a right aortic arch and hypoplastic aorta.

Show the 24 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, b2b1430Clo, and may be present in stocks carrying this mutation.

Disease models

Expression

In Structures Affected by this Mutation:

4 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 b2b1430Clo Mutation: 1 strain or line available

Notes

Summative Diagnosis:
Cardiovascular phenotype: Malalignment of the great arteries with transposition of the great arteries (TGA), double outlet right ventricle (DORV), hypoplastic left ventricle, and aortic arch anomalies such as right aortic arch (RAA) and double aortic arch
Noncardiovascular phenotype: Short snout, cleft palate, malaligned sternal vertebra, kidney agenesis, hypoplastic/dysplastic kidney, cystic kidney, and hydronephrosis

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
0600	Double outlet right ventricle
0700	D-loop transposition of the great arteries
1811	Hypoplastic left ventricle (subnormal cavity volume)
2700	Abnormal aortic arch
2720	Right aortic arch
2761	Double aortic arch
4100	Skeletal, skin, muscle anomaly
4502	Hydronephrosis
4503	Agenesis of kidneys
4876	Cleft palate
4906	Non-cardiac abnormality
4907	Non-cardiac thoracic abnormality

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)