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^b2b1289Clo

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

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Research Applications

Developmental Biology Research
Endocrine Deficiency Research
Cardiovascular 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 A-to-G point mutation at position 5632 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 congenital heart defects associated with heterotaxy such as vascular sling with isolated left subclavian artery, right aortic arch, muscular vascular septal defect (VSD) and biventricular hypertrophy. A midline liver, left pulmonary isomerism, polysplenia and duplex kidney 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 T-to-G single point mutation at position 5632 of the cDNA (c.A5632G, NM_010060) was discovered through whole exome, high throughput sequencing. This mutation is predicted to cause an threonine to alanine amino acid substitution at position 1878 of the encoded protein (p.T1878A).

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^b2b1289Clo

Allele Symbol: Dnah11^b2b1289Clo

Allele Name

Bench to Bassinet Program (B2B/CVDC) mutation 1289, Cecilia Lo

Allele Type

Chemically induced (ENU)

Allele Synonym(s)

Dnahc11^c.A5632G; Ghost

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: Congenital heart defects associated with heterotaxy such as vascular sling with isolated left subclavian artery, right aortic arch (RAA), muscular vascular septal defect (VSD), and biventricular hypertrophy
Noncardiovascular phenotype: Abnormal thoracic and abdominal organ situs anomalies, such as dextrogastria, midline liver, left pulmonary isomerism, polysplenia, hypoplastic spleen, and malaligned sternal vertebra. Also observed was anophthalmia/microphthalmia, and duplex, cystic, and hydronephrotic kidney with hydroureter

Phenotypic Similarity to Human Syndrome: Heterotaxy, Polysplenia syndrome (left isomerism), Primary Ciliary Dyskinesia (PCD)

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
0190	Heterotaxy Syndrome
0192	Polysplenia syndrome (left isomerism)
1300	Ventricular septal defect
1320	Ventricular septal defect, muscular
2700	Abnormal aortic arch
2720	Right aortic arch
2732	Isolation of the left subclavian artery
2760	Vascular ring
3804	Congenital heart disease
3817	Abdominal situs ambiguous (abdominal heterotaxy)
4100	Skeletal, skin, muscle anomaly
4239	Left bronchial isomerism
4502	Hydronephrosis
4508	Polycystic kidney disease
4512	Renal malformation
4864	Anophthalmia
4877	Microphthalmia
7505	Biventricular hypertrophy

Molecular Note

This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is an A to G substitution at coding nucleotide position 5632 in exon 33 of the cDNA (c.5632A>G, NM_010060). This changes the threonine residue to alanine at position 1878 of the encoded protein (p.T1878A).

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:

Developmental Biology Research
- Internal/Organ Defects
  - spleen: GI
  - lung
  - kidney
  - heart
  - liver
Endocrine Deficiency Research
- Spleen Defects
Cardiovascular Research
- Heart Abnormalities
  - cardiomyopathy
- Vascular Defects
Internal/Organ Research
- Kidney Defects
- Liver Defects
- Lung Defects
- Spleen Defects
- Heart Abnormalities

Mammalian Phenotype Terms by Genotype

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

Genotype: Dnah11^b2b1289Clo/Dnah11^b2b1289Clo
C57BL/6J-Dnah11

cardiovascular system phenotype

heart left ventricle hypertrophy

heart right ventricle hypertrophy

vascular ring

isolation of the left subclavian artery

muscular ventricular septal defect

right aortic arch

hematopoietic system phenotype

accessory spleen

immune system phenotype

accessory spleen

liver/biliary system phenotype

abnormal liver morphology
- midline liver

muscle phenotype

heart left ventricle hypertrophy

heart right ventricle hypertrophy

renal/urinary system phenotype

polycystic kidney

duplex kidney

hydronephrosis

respiratory system phenotype

left pulmonary isomerism

vision/eye phenotype

anophthalmia

microphthalmia

growth/size/body region phenotype

abdominal situs ambiguus

heart right ventricle hypertrophy

heterotaxia

situs inversus with levocardia

heart left ventricle hypertrophy

left pulmonary isomerism

left-sided isomerism

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^b2b1289Clo 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^b2b1289Clo/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #018196 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<b2b1289Clo>/J Frozen Embryo	$2595.00
Frozen Mouse Embryo	C57BL/6J-Dnah11<b2b1289Clo>/J Frozen Embryo	$2595.00
Frozen Mouse Embryo	C57BL/6J-Dnah11<b2b1289Clo>/J Frozen Embryo	$3373.50
Frozen Mouse Embryo	C57BL/6J-Dnah11<b2b1289Clo>/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

Dnah11b2b1289Clo

Allele Symbol: Dnah11b2b1289Clo

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: Dnah11b2b1289Clo/Dnah11b2b1289CloC57BL/6J-Dnah11

cardiovascular system phenotype

hematopoietic system phenotype

immune system phenotype

liver/biliary system phenotype

muscle phenotype

renal/urinary system phenotype

respiratory system phenotype

vision/eye phenotype

growth/size/body region phenotype

References

Additional - Dnah11b2b1289Clo 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^b2b1289Clo

Allele Symbol: Dnah11^b2b1289Clo

Genotype: Dnah11^b2b1289Clo/Dnah11^b2b1289Clo
C57BL/6J-Dnah11

Additional - Dnah11^b2b1289Clo related