Overview

This Bicc1 (bicaudal C homolog 1 (Drosophila)) recessive mutation was identified in a screen of ENU-induced mutations and may be useful in studies of ciliary dyskinesia, visceral heterotaxy and polycystic kidney disease.

The Jackson Laboratory cannot guarantee that cryorecovery of G1 sperm from the Bench to Bassinet (B2B) collection will be successful or that the anticipated phenotype or genotype will be obtained. The cryorecovery fee for this effort will not be refunded or prorated if the recovery is unsuccessful or is in any way unsatisfactory. Genotyping will be the responsibility of the Purchaser.

Donating Investigator

Cecilia Lo, Univ of Pittsburgh School of Medicine

Genetic overview

Genetic Background	Generation

Bicc1^b2b222Clo

Allele Type	Gene Symbol	Gene Name
Chemically induced (ENU)	Bicc1	BicC family RNA binding protein 1

View Genetics

Research Applications

Reproductive Biology Research
Cardiovascular Research
Developmental Biology Research
Internal/Organ Research
Endocrine Deficiency Research

View All Research Applications

Base Price

Starting at:

$2,854.50 Domestic price Cryo Recovery

View Price List

Details

Detailed Description

This c.10048T->C Bicc1 (bicaudal C homolog 1 (Drosophila)) recessive mutation was identified in an ENU screen for recessive cardiovascular development phenotypes in Dr. Cecilia Lo's laboratory, NHLBI Cardiovascular Development Consortium (CvDC). It was recovered from G1 sperm and associated with the phenotype described described here. Because G1 sperm were cryopreserved, additional ENU mutations are also segregating in this strain.

Homozygotes demonstrate laterality defects, including situs inversus totalis, and heterotaxy. Congenital heart disease (CHD) is marked by double outlet right ventricle (DORV)/transposition of the great arteries (TGA), atrioventricular septal defects (AVSD), and an interrupted aortic arch (IAA). Polycystic kidney disease, as well as pancreatic, choleductal, and gonadal cysts are also found.

Development

This ENU-induced mutation was created and maintained on a C57BL/6J genetic background by the NHLBI Cardiovascular Development Consortium (CvDC), Bench to Bassinet Program. A c.10048T->C mutation in the Bicc1 gene was discovered through whole exome, high throughput sequencing (RefSeq NM_031397.2). The mutation is in an intron near a splice site and is predicted to result in the deletion of 17 amino acids in the encoded protein.

Genetics

Bicc1^b2b222Clo

Allele Symbol: Bicc1^b2b222Clo

Allele Name

Bench to Bassinet Program (B2B/CVDC), mutation 222 Cecilia Lo

Allele Type

Chemically induced (ENU)

Allele Synonym(s)

Bicc1^c.606+2TC; Destro

Gene Symbol and Name

Bicc1, BicC family RNA binding protein 1

Gene Synonym(s)

Strain of Origin

C57BL/6J

Chromosome

10

General Note

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

Molecular Note

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).

Mutations Made By

Cecilia Lo, Univ of Pittsburgh School of Medicine

Disease/Phenotype

Disease Terms

Model with phenotypic similarity to human disease where etiologies are distinct. Human genes are associated with this disease. Orthologs of these genes do not appear in the mouse genotype(s).

visceral heterotaxy

Models with phenotypic similarity to human diseases where etiology is unknown or involving genes where ortholog is unknown.

cystic kidney disease

Research Areas By Phenotype

This mouse can be used to support research in many areas including:

Reproductive Biology Research
Cardiovascular Research
- Vascular Defects
- Heart Abnormalities
Developmental Biology Research
- Internal/Organ Defects
  - situs inversus
Internal/Organ Research
- Heart Abnormalities
- Kidney Defects
Endocrine Deficiency Research
- Pancreas Defects

Mammalian Phenotype Terms by Genotype

The following phenotype relates to a compound genotype created using this strain

Genotype: Bicc1^b2b222Clo/Bicc1^b2b222Clo
C57BL/6J-Bicc1

cardiovascular system phenotype

atrioventricular septal defect
- atrioventricular canal (endocardial cushion defect)

dextrocardia

double outlet right ventricle

d-loop transposition of the great arteries

growth/size/body region phenotype

situs inversus totalis

heterotaxia

renal/urinary system phenotype

polycystic kidney
- multicystic renal dysplasia

References

Additional - Bicc1^b2b222Clo related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Genotyping resources and troubleshooting
PCR Assay - Pitt Line 222 PCR
Breeding Considerations

Heterozygotes are both viable and fertile.
- Additional Breeding and Husbandry Support
Citation
When using the C57BL/6J-Bicc1^b2b222Clo/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #013633 in your Materials and Methods section.

Animal Health Reports

Facility Barrier Level Descriptions

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200

Pricing & Availability

Cryo Recovery

Domestic
International

Live Mouse

Age

Genotype

Price

weeks

Cryorecovery - Pricing

Service/Product	Description	Price
	The Jackson Laboratory cannot guarantee that cryorecovery of G1 sperm from the Bench to Bassinet (B2B) collection will be successful or that the anticipated phenotype or genotype will be obtained. The cryorecovery fee for this effort will not be refunded or prorated if the recovery is unsuccessful or is in any way unsatisfactory. Genotyping will be the responsibility of the Purchaser

Related Products and Services

Frozen Mouse Embryo	C57BL/6J-Bicc1<b2b222Clo>/J Frozen Embryo	$2595.00
Frozen Mouse Embryo	C57BL/6J-Bicc1<b2b222Clo>/J Frozen Embryo	$2595.00
Frozen Mouse Embryo	C57BL/6J-Bicc1<b2b222Clo>/J Frozen Embryo	$3373.50
Frozen Mouse Embryo	C57BL/6J-Bicc1<b2b222Clo>/J Frozen Embryo	$3373.50

Payment Terms and Conditions

Terms are granted by individual review and stated on the customer invoice(s) and account statement. These transactions are payable in U.S. currency within the granted terms. Payment for services, products, shipping containers, and shipping costs that are rendered are expected within the payment terms indicated on the invoice or stated by contract. Invoices and account balances in arrears of stated terms may result in The Jackson Laboratory pursuing collection activities including but not limited to outside agencies and court filings.

The Jackson Laboratory's Genotype Promise

The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.

Terms Of Use

General Terms and Conditions

Questions about Terms of Use

Licensing Information

Phone: 207-288-6470

Email: TechTran@jax.org

Donating Investigator

Genetic overview

Research Applications

Base Price

Detailed Description

Development

Bicc1b2b222Clo

Allele Symbol: Bicc1b2b222Clo

Disease Terms

Model with phenotypic similarity to human disease where etiologies are distinct. Human genes are associated with this disease. Orthologs of these genes do not appear in the mouse genotype(s).

Models with phenotypic similarity to human diseases where etiology is unknown or involving genes where ortholog is unknown.

Research Areas By Phenotype

This mouse can be used to support research in many areas including:

Mammalian Phenotype Terms by Genotype

Genotype: Bicc1b2b222Clo/Bicc1b2b222CloC57BL/6J-Bicc1

cardiovascular system phenotype

growth/size/body region phenotype

renal/urinary system phenotype

References

Additional - Bicc1b2b222Clo related

Genotyping Protocols

Breeding Considerations

Citation

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200

Live Mouse

Cryorecovery - Pricing

Related Products and Services

Payment Terms and Conditions

The Jackson Laboratory's Genotype Promise

Terms Of Use

Licensing Information

Bicc1^b2b222Clo

Allele Symbol: Bicc1^b2b222Clo

Genotype: Bicc1^b2b222Clo/Bicc1^b2b222Clo
C57BL/6J-Bicc1

Additional - Bicc1^b2b222Clo related