Bicc1^b2b222Clo
Chemically induced Allele Detail

Summary

• Symbol: Bicc1^b2b222Clo
• Name: BicC family RNA binding protein 1; Bench to Bassinet Program (B2B/CVDC), mutation 222 Cecilia Lo
• MGI ID: MGI:5285079
• Synonyms: Destro
• Gene: Bicc1 Location: Chr10:70758662-70995530 bp, - strand Genetic Position: Chr10, 36.75 cM
• Alliance: Bicc1^b2b222Clo page

Situs inversus totalis with mirror image dextrocardia {I,L,I}

Show the 15 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: Single point mutation
• Mutation details: This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a T to C substitution at nucleotide +2 after coding nucleotide 606 (c.606+2T>C, NM_031397) in intron 5. This changes splice donor site G-GT to G-GC (which is assumed to be less efficient). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Bicc1^b2b222Clo, 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 Bicc1 Mutation: 65 strains or lines available

Notes

Summative Diagnosis
Cardiovascular defects: Situs inversus totalis, heterotaxy with congenital heart disease: Double outlet right ventricle (DORV), transposition of the great arteries (TGA), atrioventricular septal defects (AVSD), and interrupted aortic arch (IAA)
Non-cardiovascular defects: polycystic kidney disease, pancreatic cyst, choleduchal cyst, gonadal cyst

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
0190	Heterotaxy syndrome
0600	Double outlet right ventricle
0700	D-loop transposition of the great arteries
1100	Atrioventricular canal (endocardial cushion defect)
3804	Congenital heart disease
4508	Polycystic kidney disease

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: 3 reference(s)