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Chemically induced Allele Detail
Symbol: Bicc1b2b222Clo
Name: BicC family RNA binding protein 1; Bench to Bassinet Program (B2B/CVDC), mutation 222 Cecilia Lo
MGI ID: MGI:5285079
Synonyms: Bicc1c.606+2TC>, Destro
Gene: Bicc1  Location: Chr10:70922832-71159700 bp, - strand  Genetic Position: Chr10, 36.75 cM
Situs inversus totalis with mirror image dextrocardia {I,L,I}

Show the 15 phenotype image(s) involving this allele.

Strain of Origin:  C57BL/6J
Project Collection: B2B/CvDC
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
Mutation detailsThis ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a T-to-C substitution (c.606+2T>C) in an intron near a splice site, which is predicted to result in the deletion of 17 amino acids in the encoded protein (p.V185_R202del). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Bicc1b2b222Clo, and may be present in stocks carrying this mutation.
View phenotypes for all genotypes (concatenated display).
Disease models
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:  19 strains or lines available
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

Phenotypic Similarity to Human Syndrome: Polycystic kidney disease, Heterotaxy

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

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). 2011-15;
All:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.03
The Jackson Laboratory