b2b1519Clo
Chemically induced Allele Detail

Summary

• Symbol: b2b1519Clo
• Name: Mutant line 1519; Bench to Bassinet Program (B2B/CVDC), mutation 1519 Cecilia Lo
• MGI ID: MGI:5433294
• Synonyms: Mellow Yellow
• Gene: b2b1519Clo Location: unknown
• Alliance: b2b1519Clo page

Mutant 1519-005-LA exhibits situs inversus totalis

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
• This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. Additional incidental mutations were detected in sequencing for the causative mutation, b2b1519Clo, and may be present in stocks carrying this mutation.

Disease models

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 b2b1519Clo Mutation: 1 strain or line available

Notes

Summative Diagnosis:
Cardiac defects: Situs inversus totalis, and heterotaxy with complex congenital heart disease (CHD) such as double outlet right ventricle (DORV), hypoplastic right ventricle, atrioventricular septal defect (AVSD), perimembranous and muscular ventricular septal defect (VSD), hypoplastic tricuspid valve, vascular ring, and left pulmonary isomerism

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
1100	Atrioventricular canal (endocardial cushion defect)
1310	Ventricular septal defect, membranous
1320	Ventricular septal defect, muscular
1720	Hypoplastic tricuspid valve
1821	Hypoplastic right ventricle (subnormal cavity volume)
0190	Heterotaxy Syndrome
2760	Vascular ring
3804	Congenital heart disease
3974	{I,L,I}
0600	Double outlet right ventricle

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)