Overview

This Adamts6 mutation and at least one other undefined mutation were 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

b2b1879Clo

Allele Type	Gene Symbol	Gene Name
Chemically induced (ENU)	b2b1879Clo	Mutant line 1879

Adamts6^b2b1879.1Clo

Allele Type	Gene Symbol	Gene Name
Chemically induced (ENU)	Adamts6	a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 6

b2b1879.2Clo

Allele Type	Gene Symbol	Gene Name
Chemically induced (ENU)	b2b1879.2Clo	Mutant line 1879.2

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Research Applications

Cardiovascular Research
Developmental Biology Research
Internal/Organ Research

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Base Price

Starting at:

$2,854.50 Domestic price Cryo Recovery

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Details

Detailed Description

This mutant strain, carrying at least two mutations, 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.

Two mutant phenotypes are observed. In the first, associated with the Adamts6 gene, homozygotes demonstrate cardiovascular defects that involve overriding aorta/double outlet right ventricle (DORV) with ventricular septal defects (subaortic, perimembranous, and muscular), atrioventricular septal defects (AVSD), and biventricular hypertrophy. Abnormal flexure of the hindlimbs, hydrops, midline fusion defect of the sternal vertebra, hypoplastic thymus, short snout, and cleft palate are also seen.

The b2b1879.2Clo mutation is associated with kidney agenesis.

Development

This ENU-induced mutation strain, carrying at least two mutations, was created and maintained on a C57BL/6J genetic background by the NHLBI Cardiovascular Development Consortium (CvDC), Bench to Bassinet Program. In the Adamts6^b2b1879.1Clo allele, a C-to-G single point mutation (c.C447G, NM_001081020) was discovered through whole exome, high throughput sequencing. This mutation is predicted to result in a serine to arginine substitution at codon 149 (p.S149R) of the expressed protein. The second mutation, b2b1879.2Clo, has not been defined.

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

b2b1879Clo

Allele Symbol: b2b1879Clo

Allele Name

Bench to Bassinet Program (B2B/CVDC), mutation 1879 Cecilia Lo

Allele Type

Chemically induced (ENU)

Allele Synonym(s)

Carter

Gene Symbol and Name

b2b1879Clo, Mutant line 1879

Gene Synonym(s)

Strain of Origin

C57BL/6J

Chromosome

UN

General Note

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 b2b1879.1Clo and b2b1879.2Clo
Summative Diagnosis:
Mutant Type 1:
Cardiovascular Phenotype: Overriding aorta/Double outlet right ventricle (DORV) with ventricular septal defects (subaortic, perimembranous, and muscular), atrioventricular septal defects (AVSD), and biventricular hypertrophy
Noncardiovascular Phenotype: Abnormal flexure of the hindlimbs, hydrops, midline fusion defect of the sternal vertebra, hypoplastic thymus, short snout, and cleft palate

Mutant Type 2:
Noncardiac phenotype: Kidney agenesis

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
0600	Double outlet right ventricle
0606	DORV + AVSD (AV canal)
1100	Atrioventricular canal (endocardial cushion defect)
1300	Ventricular septal defect
1310	Ventricular septal defect, membranous
1320	Ventricular septal defect, muscular
1432	Overriding aortic valve
4100	Skeletal, skin, muscle anomaly
4876	Cleft palate
4906	Non-cardiac abnormality
7505	Biventricular hypertrophy
4503	Agenesis of kidneys

Molecular Note

This ENU-induced mutation line 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 b2b1879.1Clo and b2b1879.2Clo

Adamts6^b2b1879.1Clo

Allele Symbol: Adamts6^b2b1879.1Clo

Allele Name

Bench to Bassinet Program (B2B/CVDC), mutation 1879.1 Cecilia Lo

Allele Type

Chemically induced (ENU)

Allele Synonym(s)

Gene Symbol and Name

Adamts6, a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 6

Gene Synonym(s)

Strain of Origin

C57BL/6J

Chromosome

13

General Note

This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. It is a subline of b2b1879Clo.
Summative Diagnosis:
Cardiovascular Phenotype: Overriding aorta/Double outlet right ventricle (DORV) with ventricular septal defects (subaortic, perimembranous, and muscular), atrioventricular septal defects (AVSD), and biventricular hypertrophy
Noncardiovascular Phenotype: Abnormal flexure of the hindlimbs, hydrops, midline fusion defect of the sternal vertebra, hypoplastic thymus, short snout, and cleft palate

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
0600	Double outlet right ventricle
0606	DORV + AVSD (AV canal)
1100	Atrioventricular canal (endocardial cushion defect)
1300	Ventricular septal defect
1310	Ventricular septal defect, membranous
1320	Ventricular septal defect, muscular
1432	Overriding aortic valve
4100	Skeletal, skin, muscle anomaly
4876	Cleft palate
4906	Non-cardiac abnormality
7505	Biventricular hypertrophy

Molecular Note

This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. It is a subline of b2b1879Clo. The molecular lesion for this subline is a C to G substitution at coding nucleotide 447 in exon 3 of the cDNA (c.447C>G, NM_001081020). This changes the serine residue to arginine at position 149 of the encoded protein (p.S149R).

b2b1879.2Clo

Allele Symbol: b2b1879.2Clo

Allele Name

Bench to Bassinet Program (B2B/CVDC), mutation 1879.2 Cecilia Lo

Allele Type

Chemically induced (ENU)

Allele Synonym(s)

Gene Symbol and Name

b2b1879.2Clo, Mutant line 1879.2

Gene Synonym(s)

Strain of Origin

C57BL/6J

Chromosome

UN

General Note

This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. It is a subline of b2b1879Clo.
Summative Diagnosis:
Noncardiac phenotype: Kidney agenesis

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
4503	Agenesis of kidneys

Molecular Note

This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. It is a subline of b2b1879Clo.

Disease/Phenotype

Disease Terms

Research Areas By Phenotype

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

Cardiovascular Research
- Heart Abnormalities
  - cardiomyopathy
- Vascular Defects
Developmental Biology Research
- Craniofacial and Palate Defects
- Internal/Organ Defects
  - heart
  - heart: vasculature
  - kidney
Internal/Organ Research
- Heart Abnormalities
- Kidney Defects

Mammalian Phenotype Terms by Genotype

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

Genotype: b2b1879Clo/b2b1879Clo
C57BL/6J-b2b1879Clo

digestive/alimentary phenotype

cleft palate

growth/size/body region phenotype

heart right ventricle hypertrophy

cleft palate

heart left ventricle hypertrophy

muscle phenotype

heart right ventricle hypertrophy

abnormal myocardium compact layer morphology

heart left ventricle hypertrophy

renal/urinary system phenotype

absent kidney

skeleton phenotype

micrognathia

cardiovascular system phenotype

heart right ventricle hypertrophy

abnormal myocardium compact layer morphology

double outlet right ventricle

heart left ventricle hypertrophy

muscular ventricular septal defect

persistent truncus arteriosis

persistent truncus arteriosus type i

craniofacial phenotype

cleft palate

micrognathia

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 - Adamts6^b2b1879.1Clo related

Additional - b2b1879.2Clo related

Additional - b2b1879Clo related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- End Point Analysis:Adamts6
- Genotyping resources and troubleshooting
Breeding Considerations

Heterozygotes are both viable and fertile.
- Additional Breeding and Husbandry Support
Citation
When using the C57BL/6J-b2b1879Clo/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #018240 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
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Frozen Mouse Embryo	C57BL/6J-b2b1879Clo/J	$3373.50
Frozen Mouse Embryo	C57BL/6J-b2b1879Clo/J	$3373.50

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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

Selected References

b2b1879Clo

Allele Symbol: b2b1879Clo

Adamts6b2b1879.1Clo

Allele Symbol: Adamts6b2b1879.1Clo

b2b1879.2Clo

Allele Symbol: b2b1879.2Clo

Disease Terms

Research Areas By Phenotype

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

Mammalian Phenotype Terms by Genotype

Genotype: b2b1879Clo/b2b1879CloC57BL/6J-b2b1879Clo

digestive/alimentary phenotype

growth/size/body region phenotype

muscle phenotype

renal/urinary system phenotype

skeleton phenotype

cardiovascular system phenotype

craniofacial phenotype

References

Additional - Adamts6b2b1879.1Clo related

Additional - b2b1879.2Clo related

Additional - b2b1879Clo 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

Adamts6^b2b1879.1Clo

Allele Symbol: Adamts6^b2b1879.1Clo

Genotype: b2b1879Clo/b2b1879Clo
C57BL/6J-b2b1879Clo

Additional - Adamts6^b2b1879.1Clo related