b2b227Clo
Chemically induced Allele Detail

Summary

• Symbol: b2b227Clo
• Name: Mutant line 227; Bench to Bassinet Program (B2B/CVDC), mutation 227 Cecilia Lo
• MGI ID: MGI:5437098
• Synonyms: Scrappy
• Gene: b2b227Clo Location: unknown
• Alliance: b2b227Clo page

Mutant 227-002-NC exhibits dextrocardia with duplicated inferior vena cava (IVC) and parallel outflow tracts which is diagnosed as DORV by EFIC imaging

Show the 19 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
• Mutation details: This ENU-induced mutation line was isolated in a screen at the University of Pittsburgh. More than one mutation in this line results in a discernible phenotype in a homozygous recessive screen. At least two segregating phenotype groups are identified. See b2b227.1Clo and b2b227.2Clo. (J:175213)

Disease models

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 b2b227Clo Mutation: 1 strain or line available

Notes

Summative Diagnosis:
Mutant Type 1:
Cardiovascular phenotype: Dextrocardia/mesocardia and congenital heart disease associated with heterotaxy, such as double outlet right ventricle (DORV), atrioventricular (AVSD) and ventricular septal defects (VSD), right aortic arch (RAA), right atrial isomerism (RAI), and dual inferior vena cava (IVC)
Noncardiovascular phenotype: Abnormal thoracic and abdominal organ situs anomalies, such as dextrogastria, hypoplastic spleen, inverted liver lobation, and malaligned sternal vertebra. Also observed were cystic lungs and immotile/slow/dyskinetic airway cilia
Mutant Type 2:
Biventricular hypertrophy

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
0110	Dextrocardia
0140	Mesocardia
0190	Heterotaxy Syndrome
0600	Double outlet right ventricle
0606	DORV + AVSD (AV canal)
1100	Atrioventricular canal (endocardial cushion defect)
1300	Ventricular septal defect
1320	Ventricular septal defect, muscular
2700	Abnormal aortic arch
2720	Right aortic arch
2810	Inferior vena cava anomaly
3804	Congenital heart disease
3817	Abdominal situs ambiguous (abdominal heterotaxy)
4100	Skeletal, skin, muscle anomaly
4200	Respiratory anomaly
4906	Non-cardiac abnormality
4907	Non-cardiac thoracic 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)