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

d-loop transposition of the great arteries

double outlet right ventricle

growth/size/body region phenotype

heterotaxia

situs inversus totalis

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

JAX® Mice, Products & Services Conditions of Use

"MICE" means mouse strains, their progeny derived by inbreeding or crossbreeding, unmodified derivatives from mouse strains or their progeny supplied by The Jackson Laboratory ("JACKSON"). "PRODUCT(S)" means biological materials supplied by JACKSON, and their derivatives. "SERVICES" means projects conducted by JACKSON for other parties that may include but are not limited to the use of MICE or PRODUCTS. "RECIPIENT" means each recipient of MICE, PRODUCTS, or SERVICES provided by JACKSON including each institution, its employees and other researchers under its control. MICE or PRODUCTS shall not be: (i) used for any purpose other than internal research, (ii) sold or otherwise provided to any third party for any use, or (iii) provided to any agent or other third party to provide breeding or other services. Acceptance of MICE, PRODUCTS or SERVICES from JACKSON shall be deemed as agreement by RECIPIENT to these conditions, and departure from these conditions requires JACKSON’s prior written authorization.

No Warranty

MICE, PRODUCTS AND SERVICES ARE PROVIDED "AS IS". JACKSON EXTENDS NO WARRANTIES OF ANY KIND, EITHER EXPRESS, IMPLIED, OR STATUTORY, WITH RESPECT TO MICE, PRODUCTS OR SERVICES, INCLUDING ANY IMPLIED WARRANTY OF MERCHANTABILITY OR FITNESS FOR A PARTICULAR PURPOSE, OR ANY WARRANTY OF NON-INFRINGEMENT OF ANY PATENT, TRADEMARK, OR OTHER INTELLECTUAL PROPERTY RIGHTS.

Credit for PRODUCTS or SERVICES

In case of dissatisfaction for a valid reason and claimed in writing by a purchaser within ninety (90) days of receipt of, PRODUCTS or SERVICES, JACKSON will, at its option, provide credit or replacement for the PRODUCT received or the SERVICES provided; JACKSON makes no other representations and this shall be the exclusive remedy of the purchaser. Please note specific policy for live mice.

Animal Care and Use for SERVICES

Consistent with the requirement for a written understanding regarding animal care and use, the JACKSON Animal Care and Use Committee will review the animal care and use protocol(s) associated with any SERVICES to be performed at JACKSON, and JACKSON shall have ultimate responsibility and authority for the care of animals while on site or in JACKSON custody.

No Liability

In no event shall JACKSON, its trustees, directors, officers, employees, and affiliates be liable for any causes of action or damages, including any direct, indirect, special, or consequential damages, arising out of the provision of MICE, PRODUCTS, or SERVICES, including economic damage or injury to property and lost profits, and including any damage arising from acts or negligence on the part of JACKSON, its agents or employees. Unless prohibited by law, in purchasing or receiving MICE, PRODUCTS, or SERVICES from JACKSON, purchaser or recipient, or any party claiming by or through them, expressly releases and discharges JACKSON from all such causes of action or damages, and further agrees to defend and indemnify JACKSON from any costs or damages arising out of any third party claims.

MICE, PRODUCTS or SERVICES are to be used in a safe manner and in accordance with all applicable governmental rules and regulations.

The foregoing represents the General Terms and Conditions applicable to JACKSON’s MICE, PRODUCTS or SERVICES. In addition, special terms and conditions of sale of certain MICE, PRODUCTS, or SERVICES may be set forth separately in JACKSON web pages, catalogs, price lists, contracts, and/or other documents, and these special terms and conditions shall also govern the sale of these MICE, PRODUCTS and SERVICES by JACKSON, and by its licensees and distributors.

Acceptance of delivery of MICE, PRODUCTS or SERVICES shall be deemed agreement to these terms and conditions. No purchase order or other document transmitted by purchaser or recipient that may modify the terms and conditions hereof, shall be in any way binding on JACKSON, and instead the terms and conditions set forth herein, including any special terms and conditions set forth separately, shall govern the sale of MICE, PRODUCTS or SERVICES by JACKSON.

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

JAX® Mice, Products & Services Conditions of Use

No Warranty

Credit for PRODUCTS or SERVICES

Animal Care and Use for SERVICES

No Liability

Bicc1^b2b222Clo

Allele Symbol: Bicc1^b2b222Clo

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

Additional - Bicc1^b2b222Clo related