Overview

This Dnah11 mutation was identified in a screen of ENU-induced mutations and may be useful in studies of heterotaxy, congenital heart disease, and kidney defects.

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

Dnah11^b2b598Clo

Allele Type	Gene Symbol	Gene Name
Chemically induced (ENU)	Dnah11	dynein, axonemal, heavy chain 11

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Research Applications

Internal/Organ Research
Cardiovascular Research
Cell Biology Research
Developmental Biology Research

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Base Price

Starting at:

$2,854.50 Domestic price Cryo Recovery

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Details

Detailed Description

This C3184T Dnah11 (dynein, axonemal, heavy chain 11) point 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 incidental mutations are also segregating in this strain.

Homozygotes demonstrate laterality defects, including situs inversus totalis, heterotaxy, left pulmonary isomerism and left liver isomerism. Cystic kidney disease, hydronephrosis, and hyperkinetic/dyskinetic airway cilia are also seen.

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 C3184T point mutation in the Dnah11 cDNA (Ref seq NM_010060) was discovered through whole exome, high throughput sequencing. This is predicted to alter an arginine residue to an isoleucine at position 1214 (p.Q1062X) in the encoded protein.

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

Dnah11^b2b598Clo

Allele Symbol: Dnah11^b2b598Clo

Allele Name

Bench to Bassinet Program (B2B/CVDC) mutation 598, Cecilia Lo

Allele Type

Chemically induced (ENU)

Allele Synonym(s)

Joplin

Gene Symbol and Name

Dnah11, dynein, axonemal, heavy chain 11

Gene Synonym(s)

Strain of Origin

C57BL/6J

Chromosome

12

General Note

Summative Diagnosis:
Cardiovascular phenotype: Situs inversus totalis, dextrocardia with muscular ventricular septal defect (VSD), ventricular myocardial non-compaction.
Noncardiovascular phenotype: Situs inversus totalis as well as heterotaxy with abnormal thoracic and abdominal organ situs anomalies, such as dextrogastria, left pulmonary isomerism, and malaligned sternal vertebra. Also observed were cystic kidneys and hydronephrosis. Airway cilia were hyperkinetic/dyskinetic

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
1300	Ventricular septal defect
1320	Ventricular septal defect, muscular
1802	Excessive myocardial trabeculation or noncompaction
3817	Abdominal situs ambiguous (abdominal heterotaxy)
3974	{I,L,I}
4100	Skeletal, skin, muscle anomaly
4239	Left bronchial isomerism
4502	Hydronephrosis
4508	Polycystic kidney disease

Molecular Note

This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The causitive molecular lesion for the cardiovascular phenotypes is a C to T substitution at coding nucleotide postition 3184 in exon 16 of the cDNA (c.3184C>T, NM_010060). This changes the glutamine residue to a stop codon at position 1062 in the encoded protein (p.Q1062*).

Disease/Phenotype

Disease Terms

Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).

primary ciliary dyskinesia 7

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

Research Areas By Phenotype

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

Internal/Organ Research
- Heart Abnormalities
- Kidney Defects
Cardiovascular Research
- Heart Abnormalities
Cell Biology Research
- Cell Motility Defects
Developmental Biology Research
- Internal/Organ Defects
  - situs inversus
  - kidney
  - liver
  - lung
  - hydronephrosis
- Cell Motility Defects

Mammalian Phenotype Terms by Genotype

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

Genotype: Dnah11^b2b598Clo/Dnah11^b2b598Clo
C57BL/6J-Dnah11

renal/urinary system phenotype

abnormal kidney morphology

hydronephrosis

polycystic kidney

respiratory system phenotype

left pulmonary isomerism

abnormal respiratory motile cilium physiology
- hyperkinetic/dyskinetic airway cilia

cardiovascular system phenotype

ventricular septal defect

muscular ventricular septal defect

dextrocardia

cellular phenotype

abnormal respiratory motile cilium physiology
- hyperkinetic/dyskinetic airway cilia

growth/size/body region phenotype

polycystic kidney

situs inversus totalis

left pulmonary isomerism

abdominal situs ambiguus

heterotaxia

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 - Dnah11^b2b598Clo 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-Dnah11^b2b598Clo/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #013659 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-Dnah11<b2b598Clo>/J Frozen Embryo	$2595.00
Frozen Mouse Embryo	C57BL/6J-Dnah11<b2b598Clo>/J Frozen Embryo	$2595.00
Frozen Mouse Embryo	C57BL/6J-Dnah11<b2b598Clo>/J Frozen Embryo	$3373.50
Frozen Mouse Embryo	C57BL/6J-Dnah11<b2b598Clo>/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

Dnah11b2b598Clo

Allele Symbol: Dnah11b2b598Clo

Disease Terms

Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).

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).

Research Areas By Phenotype

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

Mammalian Phenotype Terms by Genotype

Genotype: Dnah11b2b598Clo/Dnah11b2b598CloC57BL/6J-Dnah11

renal/urinary system phenotype

respiratory system phenotype

cardiovascular system phenotype

cellular phenotype

growth/size/body region phenotype

References

Additional - Dnah11b2b598Clo 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

Dnah11^b2b598Clo

Allele Symbol: Dnah11^b2b598Clo

Genotype: Dnah11^b2b598Clo/Dnah11^b2b598Clo
C57BL/6J-Dnah11

Additional - Dnah11^b2b598Clo related