b2b1163Clo
Chemically induced Allele Detail

Summary

• Symbol: b2b1163Clo
• Name: Mutant line 1163; Bench to Bassinet Program (B2B/CVDC), mutation 1163 Cecilia Lo
• MGI ID: MGI:5433408
• Synonyms: Goober
• Gene: b2b1163Clo Location: unknown
• Alliance: b2b1163Clo page

Mutant 1163-006-NA displays malpositioned heart with interrupted aorta and DORV (confirmed by EFIC imaging)

Show the 10 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 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 b2b1163.1Clo and b2b1163.2Clo Additional incidental mutations were detected in sequencing for the causative mutation, b2b1163Clo, and may be present in stocks carrying this mutation.

Disease models

Expression

In Structures Affected by this Mutation:

2 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 b2b1163Clo Mutation: 1 strain or line available

Notes

Summative Diagnosis:
Mutant Type 1: Cardiac defects: Congenital heart disease associated with heterotaxy such as double outlet right ventricle (DORV) with interrupted aortic arch, atrioventricular septal defect (AVSD), and hypoplastic right ventricle (RV)
Noncardiac defects: Highly cystic kidneys with tubule cysts
Mutant Type 2: Cardiac defects: Ventricular 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
1100	Atrioventricular canal (endocardial cushion defect)
1821	Hypoplastic right ventricle (subnormal cavity volume)
0190	Heterotaxy Syndrome
3804	Congenital heart disease
3950	{S,D,D}
4508	Polycystic kidney disease
0600	Double outlet right ventricle
3608	Left ventricular hypertrophy
3609	Right ventricular 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)