Overview

This mutation was identified in a screen of ENU-induced mutations and may be useful in studies of congenital heart disease, Kartagener's Syndrome, Primary Ciliary Dyskinesia, and heterotaxy.

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

Daw1^b2b1584Clo

Allele Type	Gene Symbol	Gene Name
Chemically induced (ENU)	Daw1	dynein assembly factor with WDR repeat domains 1

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Research Applications

Developmental Biology Research
Internal/Organ Research
Cardiovascular Research

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Base Price

Starting at:

$2,854.50 Domestic price Cryo Recovery

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Details

Detailed Description

This 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 here. Because G1 sperm were cryopreserved, additional incidental mutations are also segregating in this strain.

Homozygotes demonstrate laterality defects including situs inversus totalis and heterotaxia with congenital heart disease: dextrocardia, double outlet right ventricle (DORV), possible crisscross heart, and bilateral inferior vena cavae (IVC). Slow and dyskinetic airway ciliary motion are also seen.

Development

This mutation, identified in an ENU screen for recessive cardiovascular development phenotypes, was created and maintained on a C57BL/6J genetic background by the NHLBI Cardiovascular Development Consortium (CvDC), Bench to Bassinet Program.

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

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Genetics

Daw1^b2b1584Clo

Allele Symbol: Daw1^b2b1584Clo

Allele Name

Bench to Bassinet Program (B2B/CVDC), mutation 1584 Cecilia Lo

Allele Type

Chemically induced (ENU)

Allele Synonym(s)

Nebulous

Gene Symbol and Name

Daw1, dynein assembly factor with WDR repeat domains 1

Gene Synonym(s)

Strain of Origin

C57BL/6J

Chromosome

1

General Note

Summative Diagnosis:
Laterality defects including situs inversus totalis and heterotaxia with congenital heart disease: dextrocardia, double outlet right ventricle (DORV), possible crisscross heart, and bilateral inferior vena cavae (IVC), and right aortic arch (RAA)
Noncardiac phenotype: Abnormal thoracic and abdominal organ situs anomalies, such as dextrogastria, malaligned sternal vertebra, liver isomerism, left lung isomerism, and hypoplastic spleen/asplenia. Airway cilia were slow and dyskinetic

Phenotypic Similarity to Human Syndrome: Kartagener's Syndrome, Primary Ciliary Dyskinesia, 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
181	Crisscross Atrioventricular Valves
100	Situs inversus totalis
110	Dextrocardia
190	Heterotaxy Syndrome
2700	Abnormal aortic arch
2720	Right aortic arch
2810	Inferior vena cava anomaly
3804	Congenital heart disease
3817	Abdominal situs ambiguous (abdominal heterotaxy)
4100	Skeletal, skin, muscle anomaly
4239	Left bronchial isomerism
4447	Hepatic malformation
4771	Asplenia
4851	Kartagener syndrome (siewart syndrome)(primary ciliary dyskinesia)
4906	Non-cardiac abnormality
4907	Non-cardiac thoracic abnormality
600	Double outlet right ventricle
606	DORV + AVSD (AV canal)

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 coding nucleotide 197 in exon 3 of the cDNA (c.197T>C, NM_027725). This changes the leucine residue to a proline at position 66 of the encoded protein (p.L66P).

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.

Research Areas By Phenotype

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

Developmental Biology Research
- Internal/Organ Defects
  - heart
  - situs inversus
- Cell Motility Defects
Internal/Organ Research
- Heart Abnormalities
Cardiovascular Research
- Heart Abnormalities
  - cardiomyopathy

Mammalian Phenotype Terms by Genotype

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

Genotype: Daw1^b2b1584Clo/Daw1^b2b1584Clo
C57BL/6J-Daw1

growth/size/body region phenotype

left pulmonary isomerism

abdominal situs ambiguus

heterotaxia

hematopoietic system phenotype

absent spleen

immune system phenotype

absent spleen

liver/biliary system phenotype

abnormal liver morphology

respiratory system phenotype

left pulmonary isomerism

cardiovascular system phenotype

right aortic arch

abnormal atrioventricular valve morphology

abnormal aortic arch morphology

double outlet right ventricle

abnormal inferior vena cava morphology

dextrocardia

double outlet right ventricle with atrioventricular septal defect

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 - Daw1^b2b1584Clo 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 C57BL/6J-Daw1^b2b1584Clo/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #018211 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

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Frozen Mouse Embryo	C57BL/6J-Daw1<b2b1584Clo>/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

Selected References

Daw1b2b1584Clo

Allele Symbol: Daw1b2b1584Clo

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: Daw1b2b1584Clo/Daw1b2b1584CloC57BL/6J-Daw1

growth/size/body region phenotype

hematopoietic system phenotype

immune system phenotype

liver/biliary system phenotype

respiratory system phenotype

cardiovascular system phenotype

References

Additional - Daw1b2b1584Clo 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

Daw1^b2b1584Clo

Allele Symbol: Daw1^b2b1584Clo

Genotype: Daw1^b2b1584Clo/Daw1^b2b1584Clo
C57BL/6J-Daw1

Additional - Daw1^b2b1584Clo related