Overview

Also Known As:chibi

This strain carries multiple undefined mutations identified in a screen of ENU-induced mutations and may be useful in studies of congenital heart 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

b2b386Clo

Allele Type	Gene Symbol	Gene Name
Chemically induced (ENU)	b2b386Clo	Mutant line 386

b2b386.1Clo

Allele Type	Gene Symbol	Gene Name
Chemically induced (ENU)	b2b386.1Clo	Mutant line 386.1 Cecilia Lo

b2b386.2Clo

Allele Type	Gene Symbol	Gene Name
Chemically induced (ENU)	b2b386.2Clo	Mutant line 386.2 Cecilia Lo

View Genetics

Research Applications

Developmental Biology Research
Internal/Organ Research
Cardiovascular Research

View All Research Applications

Base Price

Starting at:

$2,854.50 Domestic price cryo Recovery

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Details

Detailed Description

This strain, carrying undefined mutations b2b386.1Clo and b2b386.2Clo, 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 here. Because G1 sperm were cryopreserved, additional incidental mutations are also segregating in this strain.

Homozygotes demonstrate cardiovascular defects that involve a double outlet right ventricle (DORV), common atrioventricular (AV) valve, duplicated inferior vena cava (IVC), interrupted/hypoplastic aortic arch, ventricular septal defect (VSD), and interrupted aortic arch (IAA). Left lung isomerism, left liver isomerism, and cleft palate are also seen.

Development

This strain contains at least two undefined mutations (b2b386.1Clo and b2b386.2Clo) that were identified in an ENU screen for recessive cardiovascular development phenotypes. It was created and maintained on a C57BL/6J genetic background by the NHLBI Cardiovascular Development Consortium (CvDC), Bench to Bassinet Program.

Control Suggestions

Wild-type from the colony
000664 C57BL/6J

Additional Information

Considerations for Choosing Controls

Selected References

Lo C. 2011. Information submitted by the NHLBI Cardiovascular Development Consortium (CvDC), Bench to Bassinet Program (B2B/CvDC) MGI Direct Data Submission (B2B/CvDC)MGI: J:175213

View All References

Genetics

b2b386Clo

Allele Symbol: b2b386Clo

Allele Name

Bench to Bassinet Program (B2B/CVDC), mutation 386 Cecilia Lo

Allele Type

Chemically induced (ENU)

Allele Synonym(s)

chibi

Gene Symbol and Name

b2b386Clo, Mutant line 386

Gene Synonym(s)

Strain of Origin

C57BL/6J

Chromosome

UN

General Note

Summative Diagnosis:
Cardiovascular phenotype:
Mutant 1: Heterotaxy with congenital heart disease (CHD): Double outlet right ventricle (DORV), atrioventricular (AVSD), common atrium, and ventricular septal defects (VSD), dual/bilateral inferior vena cava (IVC), coronary fistula, and ventricular non-compaction
Mutant 2: Interrupted aortic arch (IAA)

Non-cardiac phenotype:
Mutant 1: Abnormal thoracic and abdominal organ situs anomalies, such as dextrogastria, left lung isomerism, liver isomerism, and asplenia
Mutant 2: Micrognathia, cleft palate, hypoplastic thymus, malaligned sternal vertebra, as well as duplex and hydronephrotic kidneys

Phenotypic Similarity to Human Syndrome:
Mutant 1: 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 Codes	Code Description
190	Heterotaxy syndrome
606	DORV + AVSD (AV canal)
1100	Atrioventricular canal (endocardial cushion defect)
1140	Common atrium
1300	Ventricular septal defect
1802	Excessive myocardial trabeculation or noncompaction
2230	Coronary fistula (arterio-venous or arterio-cameral)
2810	Inferior vena cava anomaly
3817	Abdominal situs ambiguous (abdominal heterotaxy)
4239	Left bronchial isomerism
4771	Asplenia
600	Double outlet right ventricle
1250	Interrupted aortic arch
2700	Abnormal aortic arch
4100	Skeletal, skin, muscle anomaly
4163	Micrognathia
4447	Hepatic malformation
4502	Hydronephrosis
4512	Renal malformation
4876	Cleft palate

Molecular Note

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 b2b386.1Clo and b2b386.2Clo.

Mutations Made By

Cecilia Lo, Univ of Pittsburgh School of Medicine

b2b386.1Clo

Allele Symbol: b2b386.1Clo

Allele Name

Bench to Bassinet Program (B2B/CVDC), mutation 386.1 Cecilia Lo

Allele Type

Chemically induced (ENU)

Allele Synonym(s)

chibi

Gene Symbol and Name

b2b386.1Clo, Mutant line 386.1 Cecilia Lo

Gene Synonym(s)

Strain of Origin

C57BL/6J

Chromosome

UN

General Note

Summative Diagnosis:
Cardiovascular phenotype:
Cardiovascular phenotype: Heterotaxy with congenital heart disease (CHD): Double outlet right ventricle (DORV), atrioventricular (AVSD), common atrium, and ventricular septal defects (VSD), dual/bilateral inferior vena cava (IVC), coronary fistula, and ventricular non-compaction

Non-cardiac phenotype: Abnormal thoracic and abdominal organ situs anomalies, such as dextrogastria, left lung isomerism, liver isomerism, and asplenia

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 Codes	Code Description
190	Heterotaxy syndrome
606	DORV + AVSD (AV canal)
1100	Atrioventricular canal (endocardial cushion defect)
1140	Common atrium
1300	Ventricular septal defect
1802	Excessive myocardial trabeculation or noncompaction
2230	Coronary fistula (arterio-venous or arterio-cameral)
2810	Inferior vena cava anomaly
3817	Abdominal situs ambiguous (abdominal heterotaxy)
4239	Left bronchial isomerism
4771	Asplenia
600	Double outlet right ventricle

Molecular Note

This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. It is a subline of b2b386Clo.

b2b386.2Clo

Allele Symbol: b2b386.2Clo

Allele Name

Bench to Bassinet Program (B2B/CVDC), mutation 386.2 Cecilia Lo

Allele Type

Chemically induced (ENU)

Allele Synonym(s)

chibi

Gene Symbol and Name

b2b386.2Clo, Mutant line 386.2 Cecilia Lo

Gene Synonym(s)

Strain of Origin

C57BL/6J

Chromosome

UN

General Note

Summative Diagnosis:
Cardiovascular phenotype:
Interrupted aortic arch (IAA)

Non-cardiac phenotype: Micrognathia, cleft palate, hypoplastic thymus, malaligned sternal vertebra, as well as duplex and hydronephrotic kidneys

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 Codes	Code Description
1250	Interrupted aortic arch
2700	Abnormal aortic arch
4100	Skeletal, skin, muscle anomaly
4163	Micrognathia
4447	Hepatic malformation
4502	Hydronephrosis
4512	Renal malformation
4876	Cleft palate

Molecular Note

This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. It is a subline of b2b386Clo.

Disease/Phenotype

Disease Terms

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

visceral heterotaxy

Research Areas By Phenotype

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

Developmental Biology Research
- Craniofacial and Palate Defects
- Internal/Organ Defects
  - heart
Internal/Organ Research
- Lung Defects
- Liver Defects
- Heart Abnormalities
Cardiovascular Research
- Heart Abnormalities

Mammalian Phenotype Terms by Genotype

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

Genotype: b2b386Clo/b2b386Clo
C57BL/6J-b2b386Clo

craniofacial phenotype

micrognathia

cleft palate

digestive/alimentary phenotype

cleft palate

growth/size/body region phenotype

cleft palate

left pulmonary isomerism
- Left bronchial isomerism

abdominal situs ambiguus

heterotaxia

hematopoietic system phenotype

absent spleen

immune system phenotype

absent spleen

cardiovascular system phenotype

abnormal inferior vena cava morphology
- dual/bilateral inferior vena cava (IVC)

atrioventricular septal defect

ventricular septal defect

abnormal aortic arch morphology

abnormal myocardial trabeculae morphology
- Excessive myocardial trabeculation or noncompaction

double outlet right ventricle

interrupted aortic arch

coronary fistula

double outlet right ventricle with atrioventricular septal defect

common atrium

liver/biliary system phenotype

abnormal liver morphology
- liver isomerism

muscle phenotype

abnormal myocardial trabeculae morphology
- Excessive myocardial trabeculation or noncompaction

renal/urinary system phenotype

abnormal kidney morphology
- duplex and hydronephrotic kidneys

hydronephrosis

respiratory system phenotype

left pulmonary isomerism
- Left bronchial isomerism

skeleton phenotype

micrognathia

abnormal vertebral column morphology
- malaligned sternal vertebra

References

Lo C. 2011. Information submitted by the NHLBI Cardiovascular Development Consortium (CvDC), Bench to Bassinet Program (B2B/CvDC) MGI Direct Data Submission (B2B/CvDC)MGI: J:175213

Additional - b2b386.1Clo related

Additional - b2b386.2Clo related

Additional - b2b386Clo related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Genotyping resources and troubleshooting
Breeding Considerations

Heterozygotes are both viable and fertile.
- Additional Breeding and Husbandry Support
Citation
When using the chibi mouse strain in a publication, please cite the originating article(s) and include JAX stock #013618 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-b2b386Clo/J Frozen Embryo	$2595.00
Frozen Mouse Embryo	C57BL/6J-b2b386Clo/J Frozen Embryo	$2595.00
Frozen Mouse Embryo	C57BL/6J-b2b386Clo/J Frozen Embryo	$3373.50
Frozen Mouse Embryo	C57BL/6J-b2b386Clo/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

Also Known As:chibi

Donating Investigator

Genetic overview

Research Applications

Base Price

Detailed Description

Development

Control Suggestions

Additional Information

Selected References

b2b386Clo

Allele Symbol: b2b386Clo

b2b386.1Clo

Allele Symbol: b2b386.1Clo

b2b386.2Clo

Allele Symbol: b2b386.2Clo

Disease Terms

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: b2b386Clo/b2b386CloC57BL/6J-b2b386Clo

craniofacial phenotype

digestive/alimentary phenotype

growth/size/body region phenotype

hematopoietic system phenotype

immune system phenotype

cardiovascular system phenotype

liver/biliary system phenotype

muscle phenotype

renal/urinary system phenotype

respiratory system phenotype

skeleton phenotype

References

Additional - b2b386.1Clo related

Additional - b2b386.2Clo related

Additional - b2b386Clo 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

Genotype: b2b386Clo/b2b386Clo
C57BL/6J-b2b386Clo