b2b2350Clo
Chemically induced Allele Detail

Summary

• Symbol: b2b2350Clo
• Name: Mutant line 2350; Bench to Bassinet Program (B2B/CVDC), mutation 2350 Cecilia Lo
• MGI ID: MGI:5491275
• Synonyms: Hugdos
• Gene: b2b2350Clo Location: unknown
• Alliance: b2b2350Clo page

Mutant 2350-007-8 (E13.5) exhibits situs inversus totalis with dextrocardia and inverted outflow

Show the 27 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, b2b2350Clo, 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: 1 strain available Cell Lines: 0 lines available
• Carrying any b2b2350Clo Mutation: 1 strain or line available

Notes

Summative Diagnosis:
Cardiovascular Phenotype: Dextrocardia and dextroversion and complex congenital heart defects associated with heterotaxy, such as superior-inferior ventricles, anterior positioning of the aorta, double outlet right ventricle (DORV), DORV with anterior positioning of the aorta (DORV, Taussig Bing subtype), and atrioventricular septal defect (AVSD), right aortic arch (RAA), double aortic arch, dual inferior vena cava (IVC), ventricular non-compaction. Also observed are mutants with situs inversus totatlis without congenital heart defects.

Noncardiovascular Phenotype: Abnormal thoracic and abdominal organ situs anomalies, such as left pulmonary isomerism, some mutant fetuses exhibited absent sternal vertebrae or ribs, few with hydronephrosis and cystic kidneys

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
0100	Situs inversus totalis
0110	Dextrocardia
0184	Superior-inferior ventricles (upstairs-downstairs ventricles)
0190	Heterotaxy syndrome
0600	Double outlet right ventricle
0610	DORV, Taussig bing
1100	Atrioventricular canal (endocardial cushion defect)
1802	Excessive myocardial trabeculation or noncompaction
2700	Abnormal aortic arch
2720	Right aortic arch
2761	Double aortic arch
2810	Inferior vena cava anomaly
4100	Skeletal, skin, muscle anomaly
4239	Left bronchial isomerism
4502	Hydronephrosis
4606	DORV + AVSD (AV canal)
4851	Kartagener syndrome (siewart syndrome)(primary ciliary dyskinesia)
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)