Overview

This Dnah11 mutation was 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

Dnah11^b2b1203Clo

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

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Research Applications

Cardiovascular Research
Internal/Organ 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 C-to-T point mutation at position 2755 of the Dnah11 (dynein, axonemal, heavy chain 11) cDNA 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 situs inversus totalis and heterotaxy with congenital heart disease. Duplex kidneys with kidney cysts are also seen. Tracheal airway cilia are mostly immotile with some displaying hyperkinetic beat.

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-to-T single point mutation at position 2755 of the cDNA (c.C10243T, NM_010060) was discovered through whole exome, high throughput sequencing. This mutation is predicted to cause a glutamine to a stop codon substitution at position 919 of the encoded protein (p.Q3415X).

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^b2b1203Clo

Allele Symbol: Dnah11^b2b1203Clo

Allele Name

Bench to Bassinet Program (B2B/CVDC) mutation 1203, Cecilia Lo

Allele Type

Chemically induced (ENU)

Allele Synonym(s)

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 and heterotaxy with congenital heart disease, such as dextrocardia, dual inferior vena cava (IVC), and right aortic arch (RAA)
Noncardiovascular phenotype: Situs inversus totalis as well as abnormal thoracic and abdominal organ situs anomalies associated with heterotaxy, such as dextrogastria, inverted lung lobation, and inverted liver lobation. Also observed were duplex kidneys with kidney cysts. Tracheal airway cilia are mostly immotile with some displaying hyperkinetic beat

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
2700	Abnormal aortic arch
2720	Right aortic arch
2810	Inferior vena cava anomaly
3804	Congenital heart disease
3817	Abdominal situs ambiguous (abdominal heterotaxy)
4512	Renal malformation
4906	Non-cardiac abnormality
4907	Non-cardiac thoracic abnormality

Molecular Note

This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a C to T substitution at coding nucleotide position 2755 in exon 63 of the cDNA (c.10243C>T, NM_010060). This changes the glutamine residue to a stop codon at position 3415 of the encoded protein (p.Q3415*).

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:

Cardiovascular Research
- Heart Abnormalities
Internal/Organ Research
- Kidney Defects
  - polycystic kidney disease
- Heart Abnormalities
Developmental Biology Research
- Cell Motility Defects
- Internal/Organ Defects
  - heart
  - kidney
  - situs inversus

Mammalian Phenotype Terms by Genotype

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

Genotype: Dnah11^b2b1203Clo/Dnah11^b2b1203Clo
C57BL/6J-Dnah11

cardiovascular system phenotype

dextrocardia

right aortic arch

dual inferior vena cava

renal/urinary system phenotype

duplex kidney

kidney cyst

abnormal kidney morphology

respiratory system phenotype

abnormal respiratory conducting tube morphology

immotile respiratory cilia
- tracheal airway cilia are mostly immotile with some displaying hyperkinetic beat

cellular phenotype

immotile respiratory cilia
- tracheal airway cilia are mostly immotile with some displaying hyperkinetic beat

growth/size/body region phenotype

kidney cyst

heterotaxia

situs inversus totalis

abdominal situs ambiguus

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^b2b1203Clo 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^b2b1203Clo/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #018223 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<b2b1203Clo>/J Frozen Embryo	$2595.00
Frozen Mouse Embryo	C57BL/6J-Dnah11<b2b1203Clo>/J Frozen Embryo	$2595.00
Frozen Mouse Embryo	C57BL/6J-Dnah11<b2b1203Clo>/J Frozen Embryo	$3373.50
Frozen Mouse Embryo	C57BL/6J-Dnah11<b2b1203Clo>/J Frozen Embryo	$3373.50

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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.

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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

Dnah11b2b1203Clo

Allele Symbol: Dnah11b2b1203Clo

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: Dnah11b2b1203Clo/Dnah11b2b1203CloC57BL/6J-Dnah11

cardiovascular system phenotype

renal/urinary system phenotype

respiratory system phenotype

cellular phenotype

growth/size/body region phenotype

References

Additional - Dnah11b2b1203Clo 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^b2b1203Clo

Allele Symbol: Dnah11^b2b1203Clo

Genotype: Dnah11^b2b1203Clo/Dnah11^b2b1203Clo
C57BL/6J-Dnah11

Additional - Dnah11^b2b1203Clo related