Overview

This Dnah11 mutation was identified in a screen of ENU-induced mutations and may be useful in studies of heterotaxy and 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^b2b1279Clo

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

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Research Applications

Cardiovascular 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 A-to-T point mutation at position 10369 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 heterodoxy with congenital heart disease including transposition of the great arteries (d-TGA) with ventricular septal defects (VSD). Airway cilia show a wide range of motion defects including immotility, hyperkinetic beat, dyskinetic and slow cilia motility.

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. An A-to-T single point mutation at position 10369 of the Dnah11 cDNA (c.A10369T, NM_010060) was discovered through whole exome, high throughput sequencing. This mutation is predicted to cause an isoleucine to a phenylalanine substitution at position 3457 of the encoded protein (p.I3457F).

Genetics

Dnah11^b2b1279Clo

Allele Symbol: Dnah11^b2b1279Clo

Allele Name

Bench to Bassinet Program (B2B/CVDC) mutation 1279, 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 presenting with spectrum of congenital heart disease, including dextrocardia, transposition of the great arteries (d-TGA), double outlet right ventricle (DORV) with atrioventricular (AVSD) ventricular septal defects (VSD), mitral valve atresia, and ventricular non-compaction
Noncardiovascular phenotype: Situs inversus totalis and abnormal thoracic and abdominal organ situs anomalies associated with heterotaxy, such as dextrogastria, hypoplastic spleen, left lung isomerism, and malaligned sternal vertebra. Also observed was micrognathia and airway cilia showing a wide range of motion defects including immotility, hyperkinetic beat, dyskinetic and slow cilia motility.

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
0600	Double outlet right ventricle
0700	D-loop transposition of the great arteries
1100	Atrioventricular canal (endocardial cushion defect)
1300	Ventricular septal defect
1508	Mitral valve abnormality
1802	Excessive myocardial trabeculation or noncompaction
3804	Congenital heart disease
3817	Abdominal situs ambiguous (abdominal heterotaxy)
4100	Skeletal, skin, muscle anomaly
4163	Micrognathia
4239	Left bronchial isomerism
4906	Non-cardiac abnormality

Molecular Note

This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is an A to T substitution at coding nucleotide position 10369 in exon 64 of the cDNA (c.10369A>T, NM_010060). This changes the isoleucine residue to phenylalanine at position 3457 of the encoded protein (p.I3457F).

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
- Vascular Defects
Developmental Biology Research
- Cell Motility Defects
- Internal/Organ Defects
  - heart
  - heart: vasculature
  - situs inversus

Mammalian Phenotype Terms by Genotype

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

Genotype: Dnah11^b2b1279Clo/Dnah11^b2b1279Clo
C57BL/6J-Dnah11

growth/size/body region phenotype

left pulmonary isomerism

abdominal situs ambiguus

situs inversus totalis

heterotaxia

muscle phenotype

abnormal myocardial trabeculae morphology

respiratory system phenotype

abnormal respiratory motile cilium physiology
- Airway cilia show a wide range of motion defects including immotility, hyperkinetic beat, dyskinetic and slow cilia motility

left pulmonary isomerism

skeleton phenotype

micrognathia

cardiovascular system phenotype

abnormal myocardial trabeculae morphology

double outlet right ventricle

atrioventricular septal defect

abnormal mitral valve morphology

d-loop transposition of the great arteries

ventricular septal defect

dextrocardia

cellular phenotype

abnormal respiratory motile cilium physiology
- Airway cilia show a wide range of motion defects including immotility, hyperkinetic beat, dyskinetic and slow cilia motility

craniofacial phenotype

micrognathia

References

Additional - Dnah11^b2b1279Clo related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Genotyping resources and troubleshooting
PCR Assay - Pitt Line 1279 PCR
Breeding Considerations

Heterozygotes are both viable and fertile.
- Additional Breeding and Husbandry Support
Citation
When using the C57BL/6J-Dnah11^b2b1279Clo/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #013696 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<b2b1279Clo>/J	$2595.00
Frozen Mouse Embryo	C57BL/6J-Dnah11<b2b1279Clo>/J	$2595.00
Frozen Mouse Embryo	C57BL/6J-Dnah11<b2b1279Clo>/J	$3373.50
Frozen Mouse Embryo	C57BL/6J-Dnah11<b2b1279Clo>/J	$3373.50

Payment Terms and Conditions

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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.

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

Dnah11b2b1279Clo

Allele Symbol: Dnah11b2b1279Clo

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: Dnah11b2b1279Clo/Dnah11b2b1279CloC57BL/6J-Dnah11

growth/size/body region phenotype

muscle phenotype

respiratory system phenotype

skeleton phenotype

cardiovascular system phenotype

cellular phenotype

craniofacial phenotype

References

Additional - Dnah11b2b1279Clo 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^b2b1279Clo

Allele Symbol: Dnah11^b2b1279Clo

Genotype: Dnah11^b2b1279Clo/Dnah11^b2b1279Clo
C57BL/6J-Dnah11

Additional - Dnah11^b2b1279Clo related